Online citations, reference lists, and bibliographies.
← Back to Search

Mouse Models Of Neurodevelopmental Disease Of The Basal Ganglia And Associated Circuits.

Samuel S Pappas, D. Leventhal, R. Albin, W. Dauer
Published 2014 · Biology, Medicine

Cite This
Download PDF
Analyze on Scholarcy
Share
This chapter focuses on neurodevelopmental diseases that are tightly linked to abnormal function of the striatum and connected structures. We begin with an overview of three representative diseases in which striatal dysfunction plays a key role--Tourette syndrome and obsessive-compulsive disorder, Rett's syndrome, and primary dystonia. These diseases highlight distinct etiologies that disrupt striatal integrity and function during development, and showcase the varied clinical manifestations of striatal dysfunction. We then review striatal organization and function, including evidence for striatal roles in online motor control/action selection, reinforcement learning, habit formation, and action sequencing. A key barrier to progress has been the relative lack of animal models of these diseases, though recently there has been considerable progress. We review these efforts, including their relative merits providing insight into disease pathogenesis, disease symptomatology, and basal ganglia function.
This paper references
10.1002/mds.10207
Tourettism and dystonia after subcortical stroke
C. Kwak (2002)
10.1152/JN.2001.85.2.960
Neurons in the thalamic CM-Pf complex supply striatal neurons with information about behaviorally significant sensory events.
N. Matsumoto (2001)
10.1007/PL00005669
Differential roles of monkey striatum in learning of sequential hand movement
S. Miyachi (1997)
10.1016/j.bbr.2013.08.049
Reappraisal of spontaneous stereotypy in the deer mouse as an animal model of obsessive-compulsive disorder (OCD): Response to escitalopram treatment and basal serotonin transporter (SERT) density
D. Wolmarans (2013)
10.1073/pnas.1308195110
Double deletion of melanocortin 4 receptors and SAPAP3 corrects compulsive behavior and obesity in mice
Pin Xu (2013)
10.1073/pnas.0701185104
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
J. Hewett (2007)
10.1016/J.MOLBRAINRES.2005.09.009
Caytaxin deficiency causes generalized dystonia in rats.
J. Xiao (2005)
10.1016/j.neulet.2013.05.047
Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model
S. Iwabuchi (2013)
10.1038/nature04053
Activity of striatal neurons reflects dynamic encoding and recoding of procedural memories
Terra D. Barnes (2005)
10.1038/nature09159
Regulation of parkinsonian motor behaviours by optogenetic control of basal ganglia circuitry
A. Kravitz (2010)
10.1073/pnas.1216264109
Reversible online control of habitual behavior by optogenetic perturbation of medial prefrontal cortex
Kyle S. Smith (2012)
10.1038/nature08028
Two types of dopamine neuron distinctly convey positive and negative motivational signals
Masayuki Matsumoto (2009)
10.1523/JNEUROSCI.5011-09.2010
Saccade Suppression by Electrical Microstimulation in Monkey Caudate Nucleus
M. Watanabe (2010)
10.1136/oem.28.3.280
An Australian study of telegraphists' cramp1
D. Ferguson (1971)
10.1212/WNL.40.2.293
Extrapyramidal involvement in Rett's syndrome
P. Fitzgerald (1990)
10.1073/PNAS.0304375101
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.
Rose E Goodchild (2004)
10.1016/j.conb.2012.11.012
Updating dopamine reward signals
W. Schultz (2013)
10.1212/WNL.36.2.160
Torsion dystonia
R. Burke (1986)
10.1136/jnnp-2011-301714
Deep brain stimulation for dystonia
M. Vidailhet (2012)
10.1002/mds.25720
Striatal dopamine D1‐like receptor binding is unchanged in primary focal dystonia
M. Karimi (2013)
10.1093/BRAIN/121.7.1195
The pathophysiology of primary dystonia.
A. Berardelli (1998)
10.1093/BRAIN/93.3.525
The cortico-striate projection in the monkey.
J. Kemp (1970)
10.1523/JNEUROSCI.16-10-03444.1996
Implementation of Action Sequences by a Neostriatal Site: A Lesion Mapping Study of Grooming Syntax
H. C. Cromwell (1996)
10.1212/WNL.40.5.824
H‐reflex recovery curve and reciprocal inhibition of H‐reflex in different kinds of dystonia
M. Panizza (1990)
10.1016/j.neuroscience.2011.07.060
Functional properties of the basal ganglia's re-entrant loop architecture: selection and reinforcement
P. Redgrave (2011)
10.1016/0166-2236(89)90074-X
The functional anatomy of basal ganglia disorders
R. Albin (1989)
GABAergic Interneurons of the Striatum
A. Neurocytology (2016)
10.1016/j.expneurol.2007.12.027
Abnormal motor function and dopamine neurotransmission in DYT1 ΔGAG transgenic mice
Y. Zhao (2008)
Focal task-specific dystonia in musicians.
S. Frucht (2004)
10.1093/hmg/ddq266
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.
Pan Chen (2010)
10.1111/j.1460-9568.2005.04218.x
The role of the dorsomedial striatum in instrumental conditioning
H. Yin (2005)
10.1016/j.pediatrneurol.2012.11.001
Rett syndrome and epilepsy: an update for child neurologists.
A. Dolce (2013)
10.3389/fnsys.2011.00045
Functional Properties of Striatal Fast-Spiking Interneurons
J. Berke (2011)
10.1016/0092-8674(92)90610-O
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA
J. Lewis (1992)
10.1038/nature06104
Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice
J. M. Welch (2007)
10.1016/j.comppsych.2010.05.007
Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
L. Boardman (2011)
10.1056/NEJMcp1007805
Clinical practice. Tourette's Syndrome.
R. Kurlan (2010)
10.1016/j.neuron.2004.06.012
Coincident but Distinct Messages of Midbrain Dopamine and Striatal Tonically Active Neurons
G. Morris (2004)
10.1212/WNL.44.8.1432
Meige syndrome in the spectrum of Lewy body disease
M. Mark (1994)
10.1016/S1474-4422(13)70057-7
Movement disorders in cerebrovascular disease
R. Mehanna (2013)
10.1007/s11920-010-0097-7
The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders
M. Gonzales (2010)
10.1097/00001756-200301200-00004
Pallidotomy and incidental sequence learning in Parkinson's disease
R. Brown (2003)
10.1016/j.bbr.2011.11.003
Amphetamine stereotypy, the basal ganglia, and the “selection problem”
D. L. Wolgin (2012)
10.1371/journal.pone.0032245
Genetic Background Modulates the Phenotype of a Mouse Model of DYT1 Dystonia
Lauren M Tanabe (2012)
10.1016/j.neuron.2007.12.019
Cocaine Seeking Habits Depend upon Dopamine-Dependent Serial Connectivity Linking the Ventral with the Dorsal Striatum
D. Belin (2008)
10.1523/JNEUROSCI.2533-11.2011
Sapap3 Deletion Causes mGluR5-Dependent Silencing of AMPAR Synapses
Yehong Wan (2011)
10.1016/j.parkreldis.2011.02.013
Impulse control and related disorders in Parkinson's disease patients treated with bilateral subthalamic nucleus stimulation: a review.
M. Broen (2011)
10.1523/JNEUROSCI.0855-05.2005
Impaired Motor Learning in Mice Expressing TorsinA with the DYT1 Dystonia Mutation
N. Sharma (2005)
10.1016/0165-0173(94)00007-C
Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop
A. Parent (1995)
10.1016/j.nbd.2010.04.016
Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (ΔE) TorsinA in transgenic mice
M. Page (2010)
10.3174/ajnr.A0857
Selective Cerebral Volume Reduction in Rett Syndrome: A Multiple-Approach MR Imaging Study
J. C. Carter (2008)
10.1002/mds.25526
Animal models for dystonia
B. K. Wilson (2013)
10.1126/science.1153252
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Maria Chahrour (2008)
10.1523/JNEUROSCI.2192-08.2008
Uncoordinated Firing Rate Changes of Striatal Fast-Spiking Interneurons during Behavioral Task Performance
J. Berke (2008)
10.1002/mds.20899
Changes in blink reflex excitability after globus pallidus internus stimulation for dystonia
S. Tisch (2006)
10.1016/j.ejpn.2013.01.005
Tourette Syndrome and comorbid ADHD: current pharmacological treatment options.
R. Rizzo (2013)
10.1212/WNL.45.6.1176
Cerebral morphometric abnormalities in Tourette's syndrome
T. Hyde (1995)
10.1016/0006-8993(70)90187-3
Quantitative recording of rotational behavior in rats after 6-hydroxy-dopamine lesions of the nigrostriatal dopamine system.
U. Ungerstedt (1970)
10.1002/ajmg.c.30168
The genetics of obsessive compulsive disorder: A review of the evidence
D. Pauls (2008)
10.3171/JNS.2004.100.6.1084
Effect of subthalamic nucleus stimulation on obsessive-compulsive disorder in a patient with Parkinson disease. Case report.
D. Fontaine (2004)
10.1086/302690
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
M. Wan (1999)
10.3389/fnsys.2011.00064
The Corticostriatal and Corticosubthalamic Pathways: Two Entries, One Target. So What?
Abraham Mathai (2011)
10.1212/WNL.54.5.1193
Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation
Y. Furukawa (2000)
10.1016/S0140-6736(75)90922-8
Letter: Milk for babies.
Jelliffe Db (1975)
10.1016/j.bbr.2003.09.025
Inactivation of the infralimbic prefrontal cortex reinstates goal-directed responding in overtrained rats
E. Coutureau (2003)
10.1111/j.1460-9568.2011.07914.x
Primary food reward and reward‐predictive stimuli evoke different patterns of phasic dopamine signaling throughout the striatum
H. D. Brown (2011)
10.1093/BRAIN/112.3.681
Reciprocal inhibition between forearm muscles in patients with writer's cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to stroke.
K. Nakashima (1989)
10.1001/ARCHPSYC.1980.01780250036004
Clonidine ameliorates Gilles de la Tourette syndrome.
D. Cohen (1980)
10.1093/hmg/dds208
Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows.
H. Cheval (2012)
10.1002/MDS.870100613
Tardive tourettism after exposure to neuroleptic therapy
K. Bharucha (1995)
10.1016/j.neunet.2009.07.018
Dopamine-modulated dynamic cell assemblies generated by the GABAergic striatal microcircuit
M. Humphries (2009)
10.1016/S0925-4773(99)00212-9
Targeted inactivation of Hoxb8 affects survival of a spinal ganglion and causes aberrant limb reflexes
E. V. D. Akker (1999)
Tic disorders: What happens in the basal ganglia
M. Bronfeld (2013)
10.1016/j.neuron.2005.11.010
Loss of the Dystonia-Associated Protein TorsinA Selectively Disrupts the Neuronal Nuclear Envelope
Rose E Goodchild (2005)
10.1016/S0306-4522(98)00367-4
Thalamic inputs to striatal interneurons in monkeys: synaptic organization and co-localization of calcium binding proteins
M. Sidibé (1999)
10.1016/j.nbd.2009.01.001
Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia
G. Sciamanna (2009)
10.1016/0306-4522(96)00019-X
Choline acetyltransferase activity and vesamicol binding in Rett syndrome and in rats with nucleus basalis lesions
G. Wenk (1996)
10.1523/JNEUROSCI.19-12-05044.1999
OCD-Like Behaviors Caused by a Neuropotentiating Transgene Targeted to Cortical and Limbic D1+ Neurons
K. Campbell (1999)
10.1073/pnas.1300676110
Regulation of Torsin ATPases by LAP1 and LULL1
Chenguang Zhao (2013)
10.1152/JN.1984.52.2.290
Influence of globus pallidus on arm movements in monkeys. I. Effects of kainic acid-induced lesions.
F. Horak (1984)
10.1055/S-2007-979739
Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome.
C. Kitt (1995)
10.1016/j.cell.2010.03.055
Hematopoietic Origin of Pathological Grooming in Hoxb8 Mutant Mice
Shau-Kwaun Chen (2010)
10.1152/jn.00338.2011
The organization of the human cerebral cortex estimated by intrinsic functional connectivity.
B. T. Yeo (2011)
10.1016/j.neuron.2012.04.027
Dichotomous Organization of the External Globus Pallidus
N. Mallet (2012)
10.1016/J.YPED.2010.12.032
l-Histidine Decarboxylase and Tourette's Syndrome
J. Stockman (2012)
10.1093/hmg/ddp181
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Shay Ben-Shachar (2009)
10.1016/j.physbeh.2003.09.008
Effects of intrastriatal administration of selective dopaminergic ligands on spontaneous stereotypy in mice
M. F. Presti (2004)
10.1016/j.nbd.2012.04.015
Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein torsinA
G. Sciamanna (2012)
10.1073/PNAS.0308088101
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.
G. Torres (2004)
10.1146/annurev-neuro-061010-113641
Modulation of striatal projection systems by dopamine.
C. Gerfen (2011)
10.1093/BRAIN/87.2.367
CLINICAL AND PATHOLOGICAL STUDIES OF AN HEREDITARY NEUROPATHY IN MICE (DYSTONIA MUSCULORUM).
L. Duchen (1964)
10.1038/nn.3047
A cortical motor nucleus drives the basal ganglia-recipient thalamus in singing birds
J. Goldberg (2012)
10.1212/WNL.35.7.1066
Serum trihexyphenidyl levels in the treatment of torsion dystonia
R. Burke (1985)
10.1002/MDS.870030107
Analysis of open‐label trials in torsion dystonia using high dosages of anticholinergics and other drugs
P. Greene (1988)
10.1126/science.273.5279.1225
Tourette Syndrome: Prediction of Phenotypic Variation in Monozygotic Twins by Caudate Nucleus D2 Receptor Binding
S. S. Wolf (1996)
10.1002/cne.20060
Differential mRNA expression and protein localization of the SAP90/PSD‐95–associated proteins (SAPAPs) in the nervous system of the mouse
J. M. Welch (2004)
10.1002/1098-2396(20000915)37:4<252::AID-SYN2>3.0.CO;2-A
Cortical inputs to m2‐immunoreactive striatal interneurons in rat and monkey
T. Thomas (2000)
10.1152/JN.1996.75.3.1087
Changes in the control of arm position, movement, and thalamic discharge during local inactivation in the globus pallidus of the monkey.
M. Inase (1996)
10.1016/0165-3806(93)90084-N
Neurochemical alterations in Rett syndrome.
G. Wenk (1993)
10.1002/MDS.870030305
Pathological report of four patients presenting with cranial dystonias
W. Gibb (1988)
10.1002/ANA.410270113
Quantitative morphological analysis of striatal cholinergic neurons in perinatal asphyxia
R. Burke (1990)
10.1016/j.physbeh.2012.01.025
Melanocortin 4 receptor signaling in dopamine 1 receptor neurons is required for procedural memory learning
H. Cui (2012)
10.1002/ana.20108
Basal ganglia activity remains elevated after movement in focal hand dystonia
A. Blood (2004)
10.1126/SCIENCE.275.5306.1593
A Neural Substrate of Prediction and Reward
W. Schultz (1997)
10.1038/nn.3632
Basal Ganglia Subcircuits Distinctively Encode the Parsing and Concatenation of Action Sequences
X. Jin (2014)
10.1002/MDS.870100418
Auctioneer's jaw: A case of occupational oromandibular hemidystonia
N. Scolding (1995)
10.1002/mds.21619
Voxel based morphometry reveals specific gray matter changes in primary dystonia
K. Egger (2007)
10.1016/j.neuroscience.2013.11.062
Dystonia as a network disorder: What is the role of the cerebellum?
C. Prudente (2014)
10.1523/JNEUROSCI.4418-08.2009
Network Architecture of Gap Junction-Coupled Neuronal Linkage in the Striatum
T. Fukuda (2009)
10.1006/nbdi.2001.0428
Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification
C. Colantuoni (2001)
10.1038/sj.npp.1301165
Three-Year Outcomes in Deep Brain Stimulation for Highly Resistant Obsessive–Compulsive Disorder
B. Greenberg (2006)
10.1038/nn.2984
Novel GABAergic circuits mediate the reinforcement-related signals of striatal cholinergic interneurons
Daniel F. English (2012)
10.1002/1098-2396(20000901)37:3<194::AID-SYN3>3.0.CO;2-A
Super‐stereotypy I: Enhancement of a complex movement sequence by systemic dopamine D1 agonists
K. Berridge (2000)
10.1038/mp.2008.83
Multiple rare SAPAP3 missense variants in trichotillomania and OCD
S. Züchner (2009)
10.1016/0166-2236(90)90110-V
Primate models of movement disorders of basal ganglia origin
M. Delong (1990)
10.1038/13810
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
R. Amir (1999)
10.1152/JN.1999.82.2.978
Role of [corrected] nigrostriatal dopamine system in learning to perform sequential motor tasks in a predictive manner.
N. Matsumoto (1999)
10.1038/ng0997-40
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
L. Ozelius (1997)
10.1053/EJPN.2002.0612
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001.
B. Hagberg (2002)
drome and obsessive-compulsive disorder
C. M. McGraw (2011)
10.1038/nn.3456
Canceling actions involves a race between basal ganglia pathways
R. Schmidt (2013)
10.1002/ANA.410340220
Neuroanatomy of Rett syndrome: A volumetric imaging study
A. Reiss (1993)
10.1016/0306-4522(94)90471-5
Synaptic input and output of parvalbumin-immunoreactive neurons in the neostriatum of the rat
B. Bennett (1994)
10.1016/S0091-3057(02)01081-X
Selective blockade of spontaneous motor stereotypy via intrastriatal pharmacological manipulation
M. F. Presti (2003)
10.1016/j.tins.2006.02.007
Task-specific hand dystonia: can too much plasticity be bad for you?
A. Quartarone (2006)
10.3389/fnana.2011.00059
Basal Ganglia Disorders Associated with Imbalances in the Striatal Striosome and Matrix Compartments
J. R. Crittenden (2011)
10.1212/01.WNL.0000076181.39162.FC
Increased ventral striatal monoaminergic innervation in Tourette syndrome
R. Albin (2003)
10.1016/j.nbd.2012.03.024
Generation of a novel rodent model for DYT1 dystonia
K. Grundmann (2012)
10.1073/pnas.242566899
Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain
Matthew Tudor (2002)
10.1016/0006-8993(90)90002-S
Parvalbumin-immunoreactive neurons in the rat neostriatum: a light and electron microscopic study
H. Kita (1990)
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome
H. T. Chao (2010)
10.1016/S0140-6736(79)91614-3
CLONIDINE IN TOURETTE'S SYNDROME
D. Cohen (1979)
10.1016/j.bbr.2010.02.030
Indirect basal ganglia pathway mediation of repetitive behavior: Attenuation by adenosine receptor agonists
Yoko Tanimura (2010)
10.1523/JNEUROSCI.2824-09.2009
Decreased Firing of Striatal Neurons Related to Licking during Acquisition and Overtraining of a Licking Task
C. Tang (2009)
10.1038/mp.2008.55
Deep brain stimulation of the ventral internal capsule/ventral striatum for obsessive-compulsive disorder: worldwide experience
B. Greenberg (2010)
10.1111/j.1472-8206.1994.tb00789.x
Modulation of neurotransmitter release via histamine H3 heteroreceptors
E. Schlicker (1994)
Generation of a novel rodent model for DYT1 dystonia
K. Grundmann (2012)
10.1016/j.conb.2010.08.022
Basal ganglia contributions to motor control: a vigorous tutor
R. Turner (2010)
Tourette's syndrome.
A. Martin (1977)
10.1073/PNAS.98.4.1982
Hyperactivity and impaired response habituation in hyperdopaminergic mice.
X. Zhuang (2001)
10.1523/JNEUROSCI.6031-08.2009
Gap Junctions between Striatal Fast-Spiking Interneurons Regulate Spiking Activity and Synchronization as a Function of Cortical Activity
J. Hjorth (2009)
10.1093/cercor/bhn214
Behavioral and movement disorders induced by local inhibitory dysfunction in primate striatum.
Y. Worbe (2009)
10.1016/j.mcn.2010.09.011
A behavioral genetics approach to understanding D1 receptor involvement in phasic dopamine signaling
Valerie Z. Wall (2011)
10.1037//0735-7044.113.6.1249
The role of cognitive and affective processing in a transgenic mouse model of cortical-limbic neuropotentiated compulsive behavior.
M. McGrath (1999)
10.1152/jn.00601.2009
MeCP2 is required for normal development of GABAergic circuits in the thalamus.
Z. Zhang (2010)
10.1038/nature09263
Start/stop signals emerge in nigrostriatal circuits during sequence learning
X. Jin (2010)
10.1002/ajmg.b.31134
Family‐based genetic association study of DLGAP3 in Tourette Syndrome
J. Crane (2011)
10.1152/PHYSREV.1991.71.1.1
Histaminergic transmission in the mammalian brain.
J. Schwartz (1991)
10.1073/pnas.1014269108
Understanding dopamine and reinforcement learning: The dopamine reward prediction error hypothesis
P. Glimcher (2011)
10.1037/0735-7044.120.1.000
Local dopamine production in the dorsal striatum restores goal-directed behavior in dopamine-deficient mice.
S. Robinson (2006)
10.1016/j.jpsychores.2009.07.010
The international prevalence, epidemiology, and clinical phenomenology of Tourette syndrome: a cross-cultural perspective.
M. Robertson (2009)
10.1016/j.nbd.2013.08.001
Loss of MeCP2 function is associated with distinct gene expression changes in the striatum
Ying-tao Zhao (2013)
10.1038/nature09588
A selective role for dopamine in reward learning
S. Flagel (2011)
10.1016/0006-8993(78)90059-8
Cortico-striate projections in the rhesus monkey: The organization of certain cortico-caudate connections
E. Yeterian (1978)
10.1016/j.neuroscience.2011.08.023
Dynamic regulation of midbrain dopamine neuron activity: intrinsic, synaptic, and plasticity mechanisms
H. Morikawa (2011)
10.1016/j.expneurol.2005.08.025
Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
M. Dang (2005)
10.1016/0006-8993(94)90231-3
Electrochemical monitoring of extracellular dopamine in nucleus accumbens of rats lever-pressing for food
E. Kiyatkin (1994)
10.1016/S0006-8993(00)02646-9
Glutamatergic drugs exacerbate symptomatic behavior in a transgenic model of comorbid Tourette’s syndrome and obsessive–compulsive disorder
M. J. McGrath (2000)
10.1016/j.neuron.2007.08.018
MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number
Hsiao-Tuan Chao (2007)
10.1038/nature10754
Neuron-type specific signals for reward and punishment in the ventral tegmental area
Jeremiah Y. Cohen (2012)
10.1371/journal.pone.0070376
Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder
U. Ozomaro (2013)
10.1073/pnas.0802176105
Loss of Hoxb8 alters spinal dorsal laminae and sensory responses in mice
J. Holstege (2008)
10.1038/8138
Inhibitory control of neostriatal projection neurons by GABAergic interneurons
T. Koós (1999)
10.1101/GR.9.1.27
AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes.
A. F. Neuwald (1999)
10.1002/ana.20225
Brainstem pathology in DYT1 primary torsion dystonia
K. S. P. McNaught (2004)
10.1016/j.tins.2007.07.008
Re-emergence of striatal cholinergic interneurons in movement disorders
A. Pisani (2007)
10.1523/JNEUROSCI.09-11-03760.1989
Elementary processes of response selection mediated by distinct regions of the striatum
V. Brown (1989)
10.1016/j.brainresbull.2008.09.016
The primate centromedian–parafascicular complex: Anatomical organization with a note on neuromodulation
A. Sadikot (2009)
10.1002/ANA.410180107
Pharmacokinetics of trihexyphenidyl after short‐term and long‐term administration to dystonic patients
R. Burke (1985)
10.1212/01.wnl.0000266591.49624.1a
Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp
C. Delmaire (2007)
10.1016/J.PNPBP.2007.08.032
Stereotypic behaviour in the deer mouse: Pharmacological validation and relevance for obsessive compulsive disorder
S. Korff (2008)
10.1152/JN.00971.2006
Altered corticostriatal neurotransmission and modulation in dopamine transporter knock-down mice.
N. Wu (2007)
10.1016/S0031-9384(98)00303-5
A Rodent Model of Spontaneous Stereotypy: Initial Characterization of Developmental, Environmental, and Neurobiological Factors
S. Powell (1999)
10.1523/JNEUROSCI.18-22-09438.1998
Selective Innervation of Neostriatal Interneurons by a Subclass of Neuron in the Globus Pallidus of the Rat
M. Bevan (1998)
10.1016/j.brainres.2010.01.052
Dopamine receptor modulation of repetitive grooming actions in the rat: Potential relevance for Tourette syndrome
J. Taylor (2010)
10.1152/JN.1991.65.2.301
Basal ganglia motor control. II. Late pallidal timing relative to movement onset and inconsistent pallidal coding of movement parameters.
J. Mink (1991)
10.1093/brain/awr060
Impaired sequence learning in dystonia mutation carriers: a genotypic effect.
M. Carbon (2011)
10.1016/s0959-437x(00)00083-6
Methyl-CpG-binding protein 2 mutations in Rett syndrome.
I. B. Van den Veyver (2000)
10.1002/ajmg.b.30897
Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study
O. Bienvenu (2009)
10.1016/0006-8993(83)90103-8
Chlorpromazine methiodide acts at the vestibular nuclear complex to induce barrel rotation in the rat
R. Burke (1983)
10.1016/j.wneu.2012.06.017
Surgery for Tourette syndrome.
L. Ackermans (2013)
10.1016/J.BAGA.2013.11.001
Dissociable effects of dopamine on learning and performance within sensorimotor striatum.
D. Leventhal (2014)
10.1016/j.pbb.2003.12.004
Behavior-related alterations of striatal neurochemistry in a mouse model of stereotyped movement disorder
M. F. Presti (2004)
10.1002/ana.1272
Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation
Judith Armstrong (2001)
10.1152/JN.1999.82.5.2049
Impaired reaching and grasping after focal inactivation of globus pallidus pars interna in the monkey.
K. K. Wenger (1999)
High dosage anticholinergic therapy in dystonia.
S. Fahn (1983)
10.1055/s-0033-1334476
Recognition and treatment of neurologic Wilson's disease.
Matthew T. Lorincz (2012)
10.1126/science.1160575
Dichotomous Dopaminergic Control of Striatal Synaptic Plasticity
W. Shen (2008)
10.1016/j.neubiorev.2012.10.011
The psychopathological spectrum of Gilles de la Tourette syndrome
A. Cavanna (2013)
10.1073/pnas.0610593104
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
E. Giacometti (2007)
10.1371/journal.pone.0018357
Altered Dendritic Morphology of Purkinje cells in Dyt1 ΔGAG Knock-In and Purkinje Cell-Specific Dyt1 Conditional Knockout Mice
L. Zhang (2011)
10.1002/dvdy.22160
Differential expression of slitrk family members in the mouse nervous system
F. Beaubien (2009)
10.1002/mds.10148
Results of deep brain stimulation for dystonia: A critical reappraisal
L. Vercueil (2002)
10.1074/JBC.M910025199
Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.
K. Kustedjo (2000)
10.1523/JNEUROSCI.6000-11.2012
A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission
Elisa S. Na (2012)
10.1055/S-2007-979741
Alterations in dopaminergic function in Rett syndrome.
G. Wenk (1995)
10.1007/S00787-006-0505-Z
Attention deficit hyperactivity disorder, tics and Tourette’s syndrome: the relationship and treatment implications. A commentary
M. Robertson (2006)
10.1523/JNEUROSCI.2300-09.2009
Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia
M. Argyelan (2009)
10.1001/ARCHNEUR.60.10.1365
The Basal Ganglia and involuntary movements: impaired inhibition of competing motor patterns.
J. Mink (2003)
10.1523/JNEUROSCI.14-06-03969.1994
Responses of tonically active neurons in the primate's striatum undergo systematic changes during behavioral sensorimotor conditioning
T. Aosaki (1994)
10.1523/JNEUROSCI.05-03-00776.1985
Longitudinal topography and interdigitation of corticostriatal projections in the rhesus monkey
L. Selemon (1985)
10.1038/ng1255
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
J. Bomar (2003)
10.1038/nrn1919
The role of the basal ganglia in habit formation
H. Yin (2006)
10.1016/j.tins.2013.09.001
Basal ganglia output to the thalamus: still a paradox
J. Goldberg (2013)
10.1002/1098-2396(20000901)37:3<205::AID-SYN4>3.0.CO;2-A
Super‐stereotypy II: Enhancement of a complex movement sequence by intraventricular dopamine D1 agonists
K. Berridge (2000)
10.1080/00222895.2013.817380
Striatal Denervation Pattern Predicts Levodopa Effects on Sequence Learning in Parkinson's Disease
Y. Kwak (2013)
10.1212/01.wnl.0000180957.98702.69
Caudate volumes in childhood predict symptom severity in adults with Tourette syndrome
M. Bloch (2005)
10.1016/S0896-6273(02)00657-8
A Neural Correlate of Oculomotor Sequences in Supplementary Eye Field
X. Lu (2002)
10.1038/nature04172
Morphine reward in dopamine-deficient mice
T. Hnasko (2005)
10.1016/j.neuron.2012.04.038
Striatal Dopamine Release Is Triggered by Synchronized Activity in Cholinergic Interneurons
S. Threlfell (2012)
10.1093/BRAIN/110.2.361
Disturbance of sequential movements in patients with Parkinson's disease.
R. Benecke (1987)
10.1111/j.1469-7610.2010.02324.x
Increased putamen and callosal motor subregion in treatment-naïve boys with Tourette syndrome indicates changes in the bihemispheric motor network.
V. Roessner (2011)
10.1016/0887-8994(89)90049-0
Rett syndrome: biogenic amines and metabolites in postmortem brain.
A. Lekman (1989)
10.1586/ern.11.93
Trichotillomania and its treatment: a review and recommendations
M. Franklin (2011)
10.1212/WNL.48.2.399
Neuroanatomy in Rett syndrome
B. Subramaniam (1997)
10.3389/fnana.2010.00150
Heterogeneity and Diversity of Striatal GABAergic Interneurons
J. Tepper (2010)
10.1126/science.1234733
Repeated Cortico-Striatal Stimulation Generates Persistent OCD-Like Behavior
S. Ahmari (2013)
10.1002/syn.21515
Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome
J. Brašić (2012)
10.1002/mds.25532
Emerging concepts in the physiological basis of dystonia
A. Quartarone (2013)
10.1523/JNEUROSCI.0163-10.2010
Motor Sequences and the Basal Ganglia: Kinematics, Not Habits
M. Desmurget (2010)
10.1016/j.braindev.2004.10.002
Classic Rett syndrome in a boy with R133C mutation of MECP2
T. Masuyama (2005)
10.1371/journal.pone.0024261
Developmental Profile of the Aberrant Dopamine D2 Receptor Response in Striatal Cholinergic Interneurons in DYT1 Dystonia
G. Sciamanna (2011)
10.2214/AJR.159.1.1609693
Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis.
J. Murakami (1992)
10.1016/j.neuron.2010.06.034
Selective Activation of Striatal Fast-Spiking Interneurons during Choice Execution
G. J. Gage (2010)
10.1016/j.celrep.2012.11.014
A role for dopamine-mediated learning in the pathophysiology and treatment of Parkinson's disease.
J. Beeler (2012)
10.1016/j.euroneuro.2013.05.012
Dopaminergic activity in Tourette syndrome and obsessive-compulsive disorder
D. Denys (2013)
10.1523/JNEUROSCI.1745-13.2013
Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome
M. Jiang (2013)
10.1212/WNL.58.1.120
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
R. Walker (2002)
10.1136/jmg.2007.049452
MECP2 mutations in males
L. Villard (2007)
10.1016/S0896-6273(02)00768-7
Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3
M. Shahbazian (2002)
10.1016/j.neubiorev.2012.11.013
Clinical assessment of Tourette syndrome and tic disorders
Stephanie C Cohen (2013)
10.1073/pnas.0903214106
A basal ganglia-forebrain circuit in the songbird biases motor output to avoid vocal errors
Aaron S. Andalman (2009)
10.1523/JNEUROSCI.22-18-08158.2002
Synaptic Convergence of Motor and Somatosensory Cortical Afferents onto GABAergic Interneurons in the Rat Striatum
S. Ramanathan (2002)
10.1212/WNL.33.10.1255
High dosage anticholinergic therapy in dystonia
S. Fahn (1983)
10.1016/S0165-0173(98)00019-8
What is the role of dopamine in reward: hedonic impact, reward learning, or incentive salience?
K. Berridge (1998)
10.1016/j.nbd.2010.12.011
Abnormal plasticity in dystonia: Disruption of synaptic homeostasis
A. Quartarone (2011)
10.1162/NECO_a_00270
Reinforcement-Based Decision Making in Corticostriatal Circuits: Mutual Constraints by Neurocomputational and Diffusion Models
R. Ratcliff (2012)
10.1038/nn1722
Cortico–basal ganglia circuit mechanism for a decision threshold in reaction time tasks
Chung-Chuan Lo (2006)
10.1016/j.neuron.2013.05.038
A dual operator view of habitual behavior reflecting cortical and striatal dynamics.
Kyle S. Smith (2013)
10.1016/j.nbd.2009.12.003
Convergent evidence for abnormal striatal synaptic plasticity in dystonia
D. A. Peterson (2010)
10.1002/(SICI)1097-0193(1997)5:2<124::AID-HBM6>3.0.CO;2-5
Striatal recruitment during an implicit sequence learning task as measured by functional magnetic resonance imaging
S. Rauch (1997)
10.1212/WNL.54.9.1746
The DYT1 phenotype and guidelines for diagnostic testing
S. Bressman (2000)
10.1152/JN.1995.74.3.911
Activity in the caudate nucleus of monkey during spatial sequencing.
I. Kermadi (1995)
10.1016/0166-2236(95)98374-8
Striatal interneurones: chemical, physiological and morphological characterization
Yasuo Kawaguchi (1995)
10.1093/BRAIN/122.2.315
The effects of posteroventral pallidotomy on the preparation and execution of voluntary hand and arm movements in Parkinson's disease.
P. Limousin (1999)
10.1056/NEJMOA042187
Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia.
M. Vidailhet (2005)
10.1126/SCIENCE.1102941
By Carrot or by Stick: Cognitive Reinforcement Learning in Parkinsonism
M. Frank (2004)
10.1093/BRAIN/108.3.593
Pathophysiology of blepharospasm and oromandibular dystonia.
A. Berardelli (1985)
10.3233/JPD-130204
Review: electrophysiology of basal ganglia and cortex in models of Parkinson disease.
D. J. Ellens (2013)
10.1038/85899
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
J. Guy (2001)
10.1073/PNAS.0502762102
Distinct basal ganglia territories are engaged in early and advanced motor sequence learning.
S. Lehéricy (2005)
10.1523/JNEUROSCI.0150-11.2011
Neurobiology of Tourette Syndrome: Current Status and Need for Further Investigation
R. Felling (2011)
10.1212/01.WNL.0000094240.93745.83
“Motor circuit” gray matter changes in idiopathic cervical dystonia
B. Draganski (2003)
10.1152/jn.00420.2012
Deep brain stimulation entrains local neuronal firing in human globus pallidus internus.
Daniel R. Cleary (2013)
10.1523/JNEUROSCI.20-01-00375.2000
Dependence of GABAergic Synaptic Areas on the Interneuron Type and Target Size
Y. Kubota (2000)
10.1093/brain/awn168
The basal ganglia and cerebellum interact in the expression of dystonic movement.
Vladimir K. Neychev (2008)
10.1126/science.1206593
Adult Neural Function Requires MeCP2
Christopher M. McGraw (2011)
10.1016/j.biopsych.2013.01.008
Circuit-Selective Striatal Synaptic Dysfunction in the Sapap3 Knockout Mouse Model of Obsessive-Compulsive Disorder
Yehong Wan (2014)
10.1016/S0896-6273(01)00564-5
Hoxb8 Is Required for Normal Grooming Behavior in Mice
J. Greer (2002)
10.1038/313679A0
Depletion of unilateral striatal dopamine impairs initiation of contralateral actions and not sensory attention
M. Carli (1985)
10.1016/0006-8993(92)90830-3
Interneurons in the rat striatum: relationships between parvalbumin neurons and cholinergic neurons
H. T. Chang (1992)
10.1523/JNEUROSCI.23-34-10827.2003
Reward without Dopamine
C. M. Cannon (2003)
10.1111/j.1460-9568.2004.03095.x
Lesions of dorsolateral striatum preserve outcome expectancy but disrupt habit formation in instrumental learning
H. Yin (2004)
10.1002/ANA.410360420
Age‐dependent decline of nigrostriatal dopaminergic function: A positron emission tomographic study of grandparents and their grandchildren
M. Cordes (1994)
10.1517/14656566.9.9.1451
Antipsychotic-induced extrapyramidal symptoms and their management.
P. Dayalu (2008)
10.1017/S0317167100002213
Rett syndrome: investigation of nine patients, including PET scan.
H. Dunn (2002)
10.1016/j.nbd.2007.04.015
Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
K. Grundmann (2007)
10.1002/MDS.870040304
The sz mutant hamster: A genetic model of epilepsy or of paroxysmal dystonia?
W. Löscher (1989)
10.1523/JNEUROSCI.1678-08.2008
Loss of Muscarinic Autoreceptor Function Impairs Long-Term Depression But Not Long-Term Potentiation in the Striatum
P. Bonsi (2008)
10.1126/science.1232380
Optogenetic Stimulation of Lateral Orbitofronto-Striatal Pathway Suppresses Compulsive Behaviors
E. Burguière (2013)
10.1002/MDS.870100116
Tourettism associated with Huntington's disease
J. Jankovic (1995)
10.1023/B:JOPA.0000039566.75368.59
Modeling the Short- and Long-Duration Responses to Exogenous Levodopa and to Endogenous Levodopa Production in Parkinson's Disease
P. Chan (2004)
10.1002/MDS.870050303
Rett syndrome and associated movement disorders
P. Fitzgerald (1990)
10.1016/j.neures.2009.09.1470
Decreased Number of Parvalbumin and Cholinergic Interneurons in the Striatum of Individuals with Tourette Syndrome
Yuko Kataoka-Sasaki (2009)
10.1038/ncomms1383
TorsinA participates in endoplasmic reticulum-associated degradation
Flávia C. Nery (2011)
10.1006/nlme.1998.3843
The Basal Ganglia and Chunking of Action Repertoires
A. Graybiel (1998)
10.1016/j.neuron.2013.10.052
Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
Lissandra Castellan Baldan (2014)
10.1016/j.neuroscience.2011.08.067
Spontaneous firing and evoked pauses in the tonically active cholinergic interneurons of the striatum
J. Goldberg (2011)
10.1006/exnr.1999.7030
Altered Development of Glutamate and GABA Receptors in the Basal Ganglia of Girls with Rett Syndrome
M. Blue (1999)
10.1016/j.nbd.2010.03.003
Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia
F. Napolitano (2010)
10.1093/HMG/DDH282
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
Ann L. Collins (2004)
10.1159/000068963
Deep Brain Stimulation for Dystonia in Adults
J. Krauss (2002)
10.1146/ANNUREV.NE.09.030186.002041
Parallel organization of functionally segregated circuits linking basal ganglia and cortex.
G. E. Alexander (1986)
10.1046/j.1460-9568.1998.00250.x
Action sequencing is impaired in D1A‐deficient mutant mice
H. C. Cromwell (1998)
10.1038/323625A0
Cholinergic neuropil of the striatum observes striosomal boundaries
A. Graybiel (1986)
10.1038/nature11846
Concurrent Activation of Striatal Direct and Indirect Pathways During Action Initiation
Guohong Cui (2013)
10.1162/jocn.1995.7.4.497
Functional Mapping of Sequence Learning in Normal Humans
Scott T. Grafton (1995)
10.1016/J.NEURES.2006.09.005
Motor deficits and hyperactivity in Dyt1 knockdown mice
M. Dang (2006)
10.1523/JNEUROSCI.4870-09.2010
Distinct Roles of GABAergic Interneurons in the Regulation of Striatal Output Pathways
A. Gittis (2010)
10.1002/ana.10610
Impaired sequence learning in carriers of the DYT1 dystonia mutation
M. Ghilardi (2003)
10.1111/j.1471-4159.2007.04590.x
Dopamine release is impaired in a mouse model of DYT1 dystonia
A. Balcioglu (2007)
10.1371/journal.pone.0024539
Motor Deficits and Decreased Striatal Dopamine Receptor 2 Binding Activity in the Striatum-Specific Dyt1 Conditional Knockout Mice
F. Yokoi (2011)
10.1016/S0006-8993(99)01932-0
Behavior-related changes in the activity of substantia nigra pars reticulata neurons in freely moving rats
J. Gulley (1999)
10.1212/WNL.47.2.353
Obsessive-compulsive disorder associated with brain lesions
M. Berthier (1996)
10.1126/science.1168878
Phasic Firing in Dopaminergic Neurons Is Sufficient for Behavioral Conditioning
Hsing-Chen Tsai (2009)
10.1016/j.ijdevneu.2011.02.004
Development of repetitive behavior in a mouse model: Roles of indirect and striosomal basal ganglia pathways
Yoko Tanimura (2011)
10.1038/mp.2008.97
Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities
K. Katayama (2010)
10.1016/j.neuron.2010.06.017
Thalamic Gating of Corticostriatal Signaling by Cholinergic Interneurons
J. Ding (2010)
10.1523/JNEUROSCI.1894-10.2010
Influence of Phasic and Tonic Dopamine Release on Receptor Activation
Jakob K. Dreyer (2010)
10.1016/j.neuron.2006.09.022
Deep Brain Stimulation for Neurologic and Neuropsychiatric Disorders
T. Wichmann (2006)
10.1016/J.NBD.2006.07.006
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
A. Pisani (2006)
10.3389/fnsys.2013.00047
Different correlation patterns of cholinergic and GABAergic interneurons with striatal projection neurons
A. Adler (2013)
10.1073/PNAS.0506071102
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome.
Vardhan S Dani (2005)
10.1016/j.neubiorev.2013.01.011
Deep brain electrophysiological recordings provide clues to the pathophysiology of Tourette syndrome
A. Priori (2013)
10.1038/nrneurol.2009.160
Primary dystonia: molecules and mechanisms
Lauren M Tanabe (2009)
10.1038/nature09582
GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes
Hsiao-Tuan Chao (2010)
10.1093/HMG/DDL408
Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses.
Dianne Keen-Kim (2006)
10.1523/JNEUROSCI.2295-12.2012
Superior Colliculus Mediates Cervical Dystonia Evoked by Inhibition of the Substantia Nigra Pars Reticulata
Angela L Holmes (2012)
10.1002/ANA.410440520
Abnormal somatosensory homunculus in dystonia of the hand
W. Bara-Jimenez (1998)
10.1016/S0091-3057(97)00248-7
Psychopharmacological Distinction Between Novel Full-Efficacy “D1-like” Dopamine Receptor Agonists
A. M. Deveney (1997)
Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic
K. Grundmann (2007)
10.1136/jnnp.2009.178236
Somatosensory temporal discrimination in patients with primary focal dystonia
A. Scontrini (2009)
10.1126/science.1138389
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
J. Guy (2007)
10.1523/JNEUROSCI.1316-12.2012
MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain
M. Nguyen (2012)
10.1523/JNEUROSCI.2411-08.2008
Recurrent Inhibitory Network among Striatal Cholinergic Interneurons
Matthew A. Sullivan (2008)
10.1016/j.brs.2008.09.010
Consensus paper: Use of transcranial magnetic stimulation to probe motor cortex plasticity in dystonia and levodopa-induced dyskinesia
A. Quartarone (2009)
10.1542/pir.34-1-19
Childhood obsessive-compulsive disorder.
B. Sarvet (2013)
10.1176/APPI.FOCUS.130216
Deep Brain Stimulation in the Treatment of Obsessive-Compulsive Disorder
Patric Blomstedt (2015)
10.1523/JNEUROSCI.3989-10.2010
The Sensorimotor Striatum Is Necessary for Serial Order Learning
H. Yin (2010)
10.1016/j.brainres.2013.01.008
Using optogenetics to study habits
Kyle S. Smith (2013)
10.1073/pnas.1016445108
Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice
A. Ulug (2011)
10.1073/pnas.0608702103
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome
B. E. Mcgill (2006)
10.1212/WNL.38.5.702
Pathology in brainstem regions of individuals with primary dystonia
R. Zweig (1988)
10.1016/j.tins.2006.01.003
Meaningful silences: how dopamine listens to the ACh pause
S. Cragg (2006)
10.1016/j.neubiorev.2011.04.006
Animal models of obsessive-compulsive disorder: Exploring pharmacology and neural substrates
N. Albelda (2012)
10.1176/APPI.AJP.159.8.1329
Elevated intrasynaptic dopamine release in Tourette's syndrome measured by PET.
H. Singer (2002)
10.2741/3348
Deep brain stimulation for refractory obsessive-compulsive disorder.
Adam P. Burdick (2009)
Dopaminergic D2 receptor SPECT imaging in Rett syndrome: increase of specific binding in striatum.
C. Chiron (1993)
10.1126/SCIENCE.286.5445.1745
Building neural representations of habits.
M. Jog (1999)
10.1002/syn.21571
Miniature release events of glutamate from hippocampal neurons are influenced by the dystonia‐associated protein torsinA
Y. Kakazu (2012)
10.1111/j.1471-4159.2010.06590.x
Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo
J. Hewett (2010)
10.1016/S1044-7431(03)00129-5
Identification and characterization of Slitrk, a novel neuronal transmembrane protein family controlling neurite outgrowth
J. Aruga (2003)
10.1016/j.psychres.2012.03.037
Impact of age of onset of illness on clinical phenotype in OCD
J. Narayanaswamy (2012)
10.1074/JBC.M210718200
The Production of 53–55-kDa Isoforms Is Not Required for Ratl-Histidine Decarboxylase Activity*
J. Fleming (2003)
10.1038/mp.2011.151
Replication of association between a SLITRK1 haplotype and Tourette Syndrome in a large sample of families
I. Karagiannidis (2012)
10.1083/JCB.136.3.669
GKAP, a Novel Synaptic Protein That Interacts with the Guanylate Kinase-like Domain of the PSD-95/SAP90 Family of Channel Clustering Molecules
E. Kim (1997)
10.1002/cne.21919
Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome
Althea A. Stillman (2009)
10.1016/j.nbd.2013.01.008
Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia
ChangHyun Song (2013)
10.1002/mds.21160
Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
M. Edwards (2006)
10.1227/01.NEU.0000279719.75403.F7
Deep brain stimulation for treatment-refractory obsessive-compulsive disorder: the search for a valid target.
N. Lipsman (2007)
10.1523/JNEUROSCI.20-06-02369.2000
Striatonigrostriatal Pathways in Primates Form an Ascending Spiral from the Shell to the Dorsolateral Striatum
S. Haber (2000)
10.1371/journal.pone.0012959
Repetitive Behaviours in Patients with Gilles de la Tourette Syndrome: Tics, Compulsions, or Both?
Y. Worbe (2010)
10.1016/j.bbr.2004.08.003
Striatal opioid peptide content in an animal model of spontaneous stereotypic behavior
M. F. Presti (2005)
10.1002/AJMG.1320250523
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome.
J. C. Harris (1986)
10.1074/jbc.M704097200
The Dystonia-associated Protein TorsinA Modulates Synaptic Vesicle Recycling*
A. Granata (2008)
10.1002/MRDD.10027
Neuropathology of Rett syndrome.
D. Armstrong (2002)
10.1176/JNP.3.1.66
Quantitative magnetic resonance imaging in Rett syndrome.
M. Casanova (1991)
10.1007/s00221-005-2284-z
Neural correlates of encoding and expression in implicit sequence learning
R. Seidler (2005)
10.1016/S0140-6736(98)05964-9
Stereotactic treatment of Gilles de la Tourette syndrome by high frequency stimulation of thalamus
V. Vandewalle (1999)
10.1212/WNL.55.8.1188
Two affected boys in a Rett syndrome family
L. Villard (2000)
10.1016/0166-4328(84)90135-9
Decortication abolishes place but not cue learning in rats
I. Whishaw (1984)
10.1002/HIPO.20389
The MeCP2‐null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability
L. Zhang (2008)
10.1093/HMG/DDI012
Transgenic mouse model of early-onset DYT1 dystonia.
P. Shashidharan (2005)
10.1016/j.nbd.2010.08.025
Neurophysiology of dystonia: The role of inhibition
M. Hallett (2011)
10.1523/JNEUROSCI.1278-13.2013
Control of Basal Ganglia Output by Direct and Indirect Pathway Projection Neurons
B. S. Freeze (2013)
10.1128/MCB.01665-05
Gene Expression Analysis Exposes Mitochondrial Abnormalities in a Mouse Model of Rett Syndrome
Skirmantas Kriaucionis (2006)
10.1038/561
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
P. Jones (1998)
10.1001/archgenpsychiatry.2009.152
Altered corticostriatal functional connectivity in obsessive-compulsive disorder.
B. Harrison (2009)
10.1002/mds.23401
Decreased striatal dopamine receptor binding in primary focal dystonia: A D2 or D3 defect?
Morvarid Karimi (2011)
10.1017/S0317167100052513
Rett syndrome: review of biological abnormalities.
H. Dunn (2001)
10.1146/annurev.neuro.051508.135422
Physiology and pharmacology of striatal neurons.
A. Kreitzer (2009)
10.1097/00002826-199102000-00005
Cognitive processes in idiopathic dystonia treated with high-dose anticholinergic therapy: implications for treatment strategies.
A. Taylor (1991)
10.1152/JN.00826.2007
Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome.
L. Medrihan (2008)
10.1016/0306-4522(94)90536-3
The organization of the basal ganglia-thalamocortical circuits: Open interconnected rather than closed segregated
D. Joel (1994)
10.1038/nrneurol.2012.26
The genetics of Tourette syndrome
H. Deng (2012)
10.1083/jcb.200411026
The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
Rose E Goodchild (2005)
10.1016/j.cell.2010.05.010
A Bone to Pick with Compulsive Behavior
S. E. Hyman (2010)
10.1111/j.1460-9568.2010.07293.x
Fast‐spiking interneurons of the rat ventral striatum: temporal coordination of activity with principal cells and responsiveness to reward
Carien S Lansink (2010)
10.1016/j.tins.2012.09.006
Pause and rebound: sensory control of cholinergic signaling in the striatum
J. M. Schulz (2013)
10.1523/JNEUROSCI.3875-11.2011
Selective Inhibition of Striatal Fast-Spiking Interneurons Causes Dyskinesias
A. Gittis (2011)
10.1016/S0959-437X(00)00083-6
Methyl-CpG-binding protein 2 mutations in Rett syndrome.
I. B. V. D. Veyver (2000)
10.3109/9781841848525-7
Functional anatomy of the basal ganglia
A. Parent (1995)
10.1001/ARCHPEDI.160.1.65
Adulthood outcome of tic and obsessive-compulsive symptom severity in children with Tourette syndrome.
M. Bloch (2006)
10.1093/brain/awp194
Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.
G. Martella (2009)
10.1016/j.expneurol.2009.08.030
What can man do without basal ganglia motor output? The effect of combined unilateral subthalamotomy and pallidotomy in a patient with Parkinson's disease
J. Obeso (2009)
10.7916/D8H70DJ7
Primary Dystonia: Conceptualizing the Disorder Through a Structural Brain Imaging Lens
Ritesh A. Ramdhani (2013)
10.1016/S1054-3589(08)60732-2
Dopamine transporter changes in neuropsychiatric disorders.
D. Wong (1998)
10.1093/BRAIN/AWM243
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study.
M. Carbon (2008)
10.1111/j.1365-2990.2012.01298.x
Review: Genetics and neuropathology of primary pure dystonia
R. Paudel (2012)
10.1523/JNEUROSCI.17-02-00843.1997
Decreased [18F]Spiperone Binding in Putamen in Idiopathic Focal Dystonia
J. Perlmutter (1997)
10.1016/j.ajpath.2013.03.019
Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures.
C. Bodda (2013)
10.1523/JNEUROSCI.0041-12.2012
Cholinergic Dysfunction Alters Synaptic Integration between Thalamostriatal and Corticostriatal Inputs in DYT1 Dystonia
G. Sciamanna (2012)
10.1016/S0306-4522(01)00038-0
GABA promotes survival but not proliferation of parvalbumin-immunoreactive interneurons in rodent neostriatum: an in vivo study with stereology
K. Luk (2001)
10.1016/S0896-6273(00)00113-6
Toward a Neurobiology of Obsessive-Compulsive Disorder
A. Graybiel (2000)
10.1053/EJPN.2002.0606
Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
N. Gordon (2002)
10.1007/BF00227239
Cortex, striatum and cerebellum: control of serial order in a grooming sequence
K. Berridge (2004)
10.1152/JN.1991.65.2.330
Basal ganglia motor control. III. Pallidal ablation: normal reaction time, muscle cocontraction, and slow movement.
J. Mink (1991)
10.1016/0166-4328(87)90242-7
Natural syntax rules control action sequence of rats
K. Berridge (1987)
10.1002/MDS.870030209
Meige syndrome: Neuropathology of a case
J. Kulisevsky (1988)
10.1038/NG0296-205
The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
P. Tate (1996)
10.3389/fncel.2013.00209
Dynamics of action potential firing in electrically connected striatal fast-spiking interneurons
G. Russo (2013)
10.1212/01.wnl.0000302175.76229.f0
Neuropathology of primary adult-onset dystonia
J. Holton (2008)
10.1073/PNAS.0502624102
Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome.
P. Kalanithi (2005)
10.1186/1741-7007-3-4
Sequential super-stereotypy of an instinctive fixed action pattern in hyper-dopaminergic mutant mice: a model of obsessive compulsive disorder and Tourette's
K. Berridge (2004)
10.1136/jnnp.2008.155861
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
I. Trender-Gerhard (2009)
10.1001/ARCHPSYC.60.4.415
Basal Ganglia volumes in patients with Gilles de la Tourette syndrome.
B. Peterson (2003)
10.1007/s00702-003-0053-3
Striatal dopaminergic system in dopa-responsive dystonia: a multi-tracer PET study shows increased D2 receptors
J. Rinne (2004)
10.1007/s00213-006-0578-x
The debate over dopamine’s role in reward: the case for incentive salience
K. Berridge (2006)
10.1074/JBC.272.18.11943
SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density.
M. Takeuchi (1997)
10.1371/journal.pone.0031654
Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia
A. Blood (2012)
10.1093/BRAIN/108.2.463
The anatomical basis of symptomatic hemidystonia.
C. Marsden (1985)
10.1016/J.BRAINDEV.2006.06.001
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
A. Dayer (2007)
10.1002/mds.25475
Phenomenology and classification of dystonia: A consensus update
Alberto Albanese (2013)
10.1038/nature11160
Anhedonia requires MC4 receptor-mediated synaptic adaptations in nucleus accumbens
B. K. Lim (2012)
10.1093/HMG/DDG027
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins.
G. Caldwell (2003)
10.1038/nn.3100
Distinct roles for direct and indirect pathway striatal neurons in reinforcement
A. Kravitz (2012)
10.1146/annurev-neuro-060909-152826
Translating birdsong: songbirds as a model for basic and applied medical research.
M. Brainard (2013)
10.1016/j.biopsych.2011.09.034
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
T. Fernandez (2012)
10.1038/30764
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
Xinsheng Nan (1998)
10.1523/JNEUROSCI.04-08-01925.1984
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans
J. Lorden (1984)
10.1038/mp.2012.69
Genome-wide association study of Tourette Syndrome
J. Scharf (2013)
10.1136/jmedgenet-2013-101637
Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families
I. Karagiannidis (2013)
10.1371/journal.pone.0033153
Cell-Autonomous Alterations in Dendritic Arbor Morphology and Connectivity Induced by Overexpression of MeCP2 in Xenopus Central Neurons In Vivo
Sonya Marshak (2012)
10.1212/01.WNL.0000149764.34953.BF
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
K. Asanuma (2005)
10.1113/jphysiol.2012.246660
The evolutionary origin of the vertebrate basal ganglia and its role in action selection
S. Grillner (2013)
10.1002/ana.20113
Changes in brain anatomy in focal hand dystonia
G. Garraux (2004)
10.1038/85906
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
R. Y. Chen (2001)
10.1002/syn.21534
Synaptic vesicle recycling is enhanced by torsinA that harbors the DYT1 dystonia mutation
Y. Kakazu (2012)
10.1093/JB/MVM191
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice.
F. Yokoi (2008)
10.1097/WCO.0b013e328304b6a3
Motor sequence learning and movement disorders
J. Doyon (2008)
10.1016/0006-8993(85)91524-0
The frequency and distribution of medium-sized neurons with indented nuclei in the primate and rodent neostriatum
G. Graveland (1985)
10.1523/JNEUROSCI.13-03-00900.1993
Responses of monkey dopamine neurons to reward and conditioned stimuli during successive steps of learning a delayed response task
W. Schultz (1993)
10.1016/0306-4522(89)90128-0
The organization of the projection from the cerebral cortex to the striatum in the rat
A. McGeorge (1989)
10.1016/S0031-9384(02)00641-8
Dissociation between spontaneously emitted and apomorphine-induced stereotypy in Peromyscus maniculatus bairdii
M. F. Presti (2002)
10.1212/WNL.0b013e3181a187dd
Striatal [11C]dihydrotetrabenazine and [11C]methylphenidate binding in Tourette syndrome
R. Albin (2009)
10.1126/SCIENCE.1116502
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Jesse F Abelson (2005)
10.1016/j.bbr.2005.07.012
Inactivation of dorsolateral striatum enhances sensitivity to changes in the action–outcome contingency in instrumental conditioning
H. Yin (2006)
10.1007/s00702-003-0822-z
Rett Syndrome – an update
K. Jellinger (2003)
10.1093/BRAIN/123.3.425
Tourette syndrome, associated conditions and the complexities of treatment.
M. Robertson (2000)
10.1152/jn.00270.2012
The organization of the human striatum estimated by intrinsic functional connectivity.
E. Choi (2012)
Abnormal brain networks in primary torsion dystonia.
M. Carbon (2004)
10.1152/JN.1992.67.6.1669
Large aspiny cells in the matrix of the rat neostriatum in vitro: physiological identification, relation to the compartments and excitatory postsynaptic currents.
Y. Kawaguchi (1992)
10.1111/j.1460-9568.2012.08108.x
Basal ganglia activity patterns in parkinsonism and computational modeling of their downstream effects
J. Rubin (2012)



This paper is referenced by
10.1093/hmg/ddx405
TorsinA dysfunction causes persistent neuronal nuclear pore defects
Samuel S Pappas (2018)
10.17116/jnevro201911910122
[Diagnostic and therapeutic issues of using transcranial magnetic stimulation in patients with writer's cramp].
A. Poydasheva (2019)
10.12688/f1000research.6209.2
Tourette Syndrome research highlights 2014.
Cheryl A. Richards (2015)
Tourette Syndrome research highlights 2014 (version 2; referees: 3 approved with reservations)
Cheryl A. Richards (2015)
10.7554/eLife.33331
Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum
M. Maltese (2018)
10.12688/f1000research.6209.2
Tourette Syndrome research highlights 2014
Cheryl A. Richards (2015)
10.1016/j.brainresbull.2020.09.011
The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia
Yuning Liu (2020)
10.1073/pnas.1902300116
Understanding Parkinson’s disease and deep brain stimulation: Role of monkey models
J. Vitek (2019)
10.1007/s13311-014-0297-7
Inherited Isolated Dystonia: Clinical Genetics and Gene Function
W. Dauer (2014)
10.3389/fncel.2015.00269
The presence of cortical neurons in striatal-cortical co-cultures alters the effects of dopamine and BDNF on medium spiny neuron dendritic development
Rachel D. Penrod (2015)
10.5072/PRISM/24841
Anatomy and Function of Synaptic Zinc in the Striatum
Sarah E. Thackray (2015)
10.1517/17460441.2016.1103225
A review of animal models of obsessive-compulsive disorder: a focus on developmental, immune, endocrine and behavioral models
M. Grados (2016)
The DYT 6 Dystonia Protein THAP 1 Regulates Myelination within the Oligodendrocyte Lineage Graphical Abstract Highlights
Dhananjay Yellajoshyula (2017)
10.1016/j.expneurol.2016.10.013
Altered postnatal maturation of striatal GABAergic interneurons in a phenotypic animal model of dystonia
C. Bode (2017)
10.1002/brb3.1024
Centella asiatica increases hippocampal synaptic density and improves memory and executive function in aged mice
N. Gray (2018)
10.1016/j.vascn.2020.106676
Marble-burying behavior test as a murine model of compulsive-like behavior.
P. Dixit (2020)
10.1016/j.devcel.2017.06.009
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Dhananjay Yellajoshyula (2017)
10.7554/eLife.36691
A cell autonomous torsinA requirement for cholinergic neuron survival and motor control
Samuel S Pappas (2018)
10.7554/eLife.08352
Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons
Samuel S Pappas (2015)
10.1038/s41598-020-70383-6
Systems biology reveals reprogramming of the S-nitroso-proteome in the cortical and striatal regions of mice during aging process
Maryam Kartawy (2020)
10.3233/JAD-170775
Comprehensive Characterization of the Pyroglutamate Amyloid-β Induced Motor Neurodegenerative Phenotype of TBA2.1 Mice
Tina Dunkelmann (2018)
10.1093/hmg/ddv355
A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation.
Corinne E. Weisheit (2015)
Moving Towards Answers for DYT1 Dystonia: Development and Application of In Vivo and In Vitro Approaches to Elucidate Disease Pathogenesis.
Corinne E. Weisheit (2015)
10.1016/B978-0-444-63233-3.00016-6
Inherited dystonias: clinical features and molecular pathways.
Corinne E. Weisheit (2018)
10.1016/j.jneumeth.2020.108728
Models of dystonia: an update
P. Imbriani (2020)
10.2217/nmt-2017-0019
A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.
Amelia D Moser (2017)
10.1002/sctm.16-0158
A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing
Scott Bell (2017)
10.1016/b978-0-444-64196-0.00011-x
Cingulate role in Tourette syndrome.
J. O'Neill (2019)
Semantic Scholar Logo Some data provided by SemanticScholar