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Primary Dystonia: Moribund Or Viable

S. Bressman, R. Saunders-Pullman
Published 2013 · Medicine

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With increasing understanding of dystonia genetic etiologies and pathophysiology there has been renewed scrutiny and reappraisal of dystonia classification schemes and nomenclature. One important category that includes both clinical and etiologic criteria is primary dystonia. This editorialized review discusses the impact of recent findings on primary dystonia criteria and argues that it remains useful in clinical and research practice. © 2013 Movement Disorder Society
This paper references
Dystonia, Part 2 (clinical classification)
E. Herz (1944)
10.1523/JNEUROSCI.2300-09.2009
Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia
M. Argyelan (2009)
10.1212/WNL.38.5.702
Pathology in brainstem regions of individuals with primary dystonia
R. Zweig (1988)
10.1136/jnnp.2007.131524
Tactile temporal discrimination in patients with blepharospasm
M. Fiorio (2007)
10.1212/WNL.0b013e31824d58ab
Fixing the broken system of genetic locus symbols
C. Marras (2012)
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)
10.1176/appi.neuropsych.11020048
Obsessive-compulsive-spectrum symptoms in patients with focal dystonia, hemifacial spasm, and healthy subjects.
M. Mula (2012)
10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2
Rapid‐onset dystonia–parkinsonism: Linkage to chromosome 19q13
P. Kramer (1999)
10.1093/brain/awr224
The non-motor syndrome of primary dystonia: clinical and pathophysiological implications.
M. Stamelou (2012)
10.1002/mds.23250
Psychiatric symptoms associated with focal hand dystonia
V. Voon (2010)
10.2519/JOSPT.1996.23.4.234
Sensory dysfunction associated with repetitive strain injuries of tendinitis and focal hand dystonia: a comparative study.
N. Byl (1996)
10.1038/ng.304
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
T. Fuchs (2009)
Obsessive-compulsivespectrum symptoms in patients with focal dystonia, hemifacial spasm, and healthy subjects
M Mula (2012)
10.1002/ana.10525
Temporal processing of visuotactile and tactile stimuli in writer's cramp
M. Fiorio (2003)
10.1093/BRAIN/AWG219
Abnormalities of spatial discrimination in focal and generalized dystonia.
F. M. Molloy (2003)
10.1001/ARCHNEURPSYC.1944.02290280003001
DYSTONIA: I. HISTORICAL REVIEW; ANALYSIS OF DYSTONIC SYMPTOMS AND PHYSIOLOGIC MECHANISMS INVOLVED
E. Herz (1944)
10.1016/0022-3999(91)90044-O
Psychosocial factors and depression in torticollis.
M. Jahanshahi (1991)
Classification and investigation of dystonia
S Fahn (1987)
10.1007/s10048-008-0142-4
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
E. Chouery (2008)
10.1136/jnnp.2008.170191
Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles
R. Lencer (2009)
10.1002/mds.25146
THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations
G. Xiromerisiou (2012)
10.1212/WNL.54.5.1193
Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation
Y. Furukawa (2000)
10.7916/D8PR7TPC
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers
Andres F Deik (2012)
Investigation of dystonia.
C. Marsden (1988)
Rapid - onset dystoniaparkinsonism
WB Dobyns (1993)
10.1136/jnnp.2004.056614
Diffusion tensor imaging in primary cervical dystonia
C. Colosimo (2005)
10.1212/WNL.55.7.991
Rapid-onset dystonia-parkinsonism
S.J. Pittock (2000)
10.1007/s00415-011-6125-7
Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype
D. Bradley (2011)
10.1002/lary.20677
Brainstem pathology in spasmodic dysphonia
K. Simonyan (2010)
10.1186/1471-2377-10-66
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor
P. Hedera (2010)
10.1038/NG1194-236
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
H. Ichinose (1994)
10.1176/JNP.4.4.435
Bipolar disorder in idiopathic dystonia: clinical features and possible neurobiology.
E. Lauterbach (1992)
Le spasme de torsion
A. Wimmer (1929)
10.1002/ANA.410440520
Abnormal somatosensory homunculus in dystonia of the hand
W. Bara-Jimenez (1998)
10.1212/WNL.53.8.1794
Abnormal perception of vibration-induced illusion of movement in dystonia
S. Rome (1999)
10.1002/ana.20225
Brainstem pathology in DYT1 primary torsion dystonia
K. S. P. McNaught (2004)
10.1002/mds.23709
Nonmotor manifestations of dystonia: A systematic review
Daniel J Kuyper (2011)
Idiopathic dystonia musculorum deformans. I. The hereditary pattern.
W. Zeman (1959)
10.1002/mds.23837
Arm tremor in cervical dystonia—Is it a manifestation of dystonia or essential tremor?
Sarah Schiebler (2011)
10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2
Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31
T. Nygaard (1999)
10.1212/WNL.10.12.1068
Idiopathic dystonia musculorum deformans
W. Zeman (1960)
10.1093/HMG/5.10.1673
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
B. Leube (1996)
10.1002/mds.25475
Phenomenology and classification of dystonia: A consensus update
Alberto Albanese (2013)
10.1111/j.1365-2990.2012.01298.x
Review: Genetics and neuropathology of primary pure dystonia
R. Paudel (2012)
10.1016/j.ajhg.2012.10.024
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
G. Charlesworth (2012)
Part 1 (historical review)
E Herz (1944)
10.1093/BRAIN/124.9.1765
Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptoms.
A. Münchau (2001)
10.1016/S0969-9961(02)00010-4
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
K. Rostásy (2003)
10.1093/brain/awr194
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
O. Kimmich (2011)
10.1002/ana.23547
Mutations in CIZ1 cause adult onset primary cervical dystonia
J. Xiao (2012)
10.1016/j.nbd.2011.01.012
Update on the pathology of dystonia
D. Standaert (2011)
10.1001/ARCHNEURPSYC.1944.02290280017002
DYSTONIA: II. CLINICAL CLASSIFICATION
E. Herz (1944)
10.1212/WNL.59.3.445
Dopamine transmission in DYT1 dystonia: A biochemical and autoradiographical study
S. Augood (2002)
10.1111/j.1468-1331.2010.03053.x
The epidemiology of primary dystonia: current evidence and perspectives
G. Defazio (2010)
Brainstem pathology in spasmodic dysphonia. Laryngoscope 2010;120:121–124
K Simonyan (2010)
10.1212/WNL.55.12.1869
Spatial discrimination is abnormal in focal hand dystonia
W. Bara-Jimenez (2000)
10.1038/ng0997-40
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
L. Ozelius (1997)
10.1093/BRAIN/AWH630
Selective impairment of hand mental rotation in patients with focal hand dystonia.
M. Fiorio (2006)
Idiopathic dystonia musculorum deformans . II . The formes frustes
W Zeman (1960)
10.1136/jnnp.72.5.608
What are the determinants of quality of life in people with cervical dystonia?
Y. Ben-Shlomo (2002)
Ueber eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters (dysbasia lordotica progressiva, dystonia musculorum deformans)
(1911)
sinA immunoreactivity in brains of patients with DYT 1 and nonDYT 1 dystonia
RH Walker (2002)
Dystonia, Part 1 (historical review)
E. Herz (1944)
10.1212/01.WNL.0000137113.39225.FA
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
G. Heiman (2004)
10.1002/1531-8257(200101)16:1<94::AID-MDS1020>3.0.CO;2-O
Abnormalities of spatial and temporal sensory discrimination in writer's cramp
T. Sanger (2001)
10.1111/j.1468-1331.2007.02034.x
Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm
G. Fabbrini (2008)
10.1093/BRAIN/120.12.2179
Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?
R. Grünewald (1997)
10.1002/ajmg.b.30431
Obsessive‐compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene
G. Heiman (2007)
Factors affecting the health-related quality of life of patients with cervical dystonia and the impact of botulinum toxin type A injections.
J. Slawek (2007)
10.1016/j.clinph.2008.04.292
Impaired body movement representation in DYT1 mutation carriers
M. Fiorio (2008)
10.1007/BF00867421
A genetic study of idiopathic focal dystonias
M. Stojanovic (2004)
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies.
W. Zeman (1967)
10.1212/WNL.50.5_SUPPL_5.S1
Tolcapone: COMT inhibition for the treatment of Parkinson's disease.
S. Fahn (1998)
10.1002/mds.22889
Comparing endophenotypes in adult‐onset primary torsion dystonia
D. Bradley (2010)
10.1016/j.neuroimage.2011.02.045
Structural, functional and molecular imaging of the brain in primary focal dystonia—A review
E. Zoons (2011)
10.1016/j.neuroscience.2008.12.041
Abnormal structure-function relationships in hereditary dystonia
M. Carbon (2009)
10.1016/0896-6273(89)90188-8
Human gene for torsion dystonia located on chromosome 9q32-q34
L. Ozelius (1989)
Dopa responsive dystonia.
N. Kamal (1989)
10.1002/ana.21626
Digit‐specific aberrations in the primary somatosensory cortex in Writer's cramp
A. Nelson (2009)
Classification of dystonia.
S. Fahn (1998)
10.1097/00001756-199905140-00028
Temporal discrimination of somesthetic stimuli is impaired in dystonic patients.
M. Tinazzi (1999)
10.1093/brain/awr060
Impaired sequence learning in dystonia mutation carriers: a genotypic effect.
M. Carbon (2011)
10.1212/WNL.58.1.120
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
R. Walker (2002)
Part 2 (clinical classification)
E Herz (1944)
10.3389/fneur.2013.00034
Genetic Issues in the Diagnosis of Dystonias
S. Petrucci (2013)
10.1002/mds.22983
Psychiatric disorders in adult‐onset focal dystonia: A case‐control study
G. Fabbrini (2010)
10.1007/s100720170063
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset
E. M. Valente (2001)
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.
N. Risch (1990)
10.1007/s10048-011-0274-9
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
Nina Norgren (2011)
10.1002/MDS.870030209
Meige syndrome: Neuropathology of a case
J. Kulisevsky (1988)
10.1038/ng.2496
Mutations in GNAL cause primary torsion dystonia
T. Fuchs (2013)
10.1038/NG1293-386
Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q
T. Nygaard (1993)
10.1002/ANA.410380203
Is dystonia a sensory disorder?
M. Hallett (1995)
10.1136/jmg.12.1.12
A genetic study of torsion dystonia.
S. Bundey (1975)
10.1097/00001756-199811160-00006
Alteration of digital representations in somatosensory cortex in focal hand dystonia
T. Elbert (1998)
10.1212/WNL.44.8.1432
Meige syndrome in the spectrum of Lewy body disease
M. Mark (1994)
Dopa - responsive dysto
TG Nygaard (1988)
10.1093/BRAIN/AWL283
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
M. Fiorio (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)
10.1016/S1474-4422(09)70081-X
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
S. Bressman (2009)
10.1002/mds.10019
Deficits of temporal discrimination in dystonia are independent from the spatial distance between the loci of tactile stimulation
M. Tinazzi (2002)
Rapid-onset dystoniaparkinsonism. Neurology 1993;43:2596–2602
WB Dobyns (1993)
About a peculiar disease of infantile spasm and young age (dysbasia lordotica progressiva
H Oppenheim
10.1093/BRAIN/97.1.793
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients.
C. Marsden (1974)
10.1002/ana.23829
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
K. Lohmann (2013)
10.1212/WNL.54.9.1746
The DYT1 phenotype and guidelines for diagnostic testing
S. Bressman (2000)
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)
10.1212/WNL.43.12.2596
Rapid‐onset dystonia‐parkinsonism
W. Dobyns (1993)
sinA immunoreactivity in brains of patients with DYT 1 and non - DYT 1 dystonia
RH Walker (2002)
Idiopathic dystonia muscu - lorum deformans . II . The formes frustes
W Zeman (1960)
10.1002/mds.23906
Obsessive‐compulsive symptoms in primary focal dystonia: A controlled study
B. Barahona-Corrêa (2011)
10.1212/01.wnl.0000302175.76229.f0
Neuropathology of primary adult-onset dystonia
J. Holton (2008)
10.1001/archneurol.2009.8
Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp.
C. Delmaire (2009)
10.1159/000116969
Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia.
G. Defazio (1993)
10.1002/MDS.870050403
Alcohol‐responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
M. Kyllerman (1990)



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