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Frequency Of Familial Inheritance Among 488 Index Patients With Idiopathic Focal Dystonia And Clinical Variability In A Large Family
B. Leube, K. Kessler, T. Goecke, G. Auburger, R. Benecke
Published 1997 · Medicine
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Idiopathic torsion dystonia is characterized by involuntary twisting movements and postures. One molecularly defined form with generalized dystonia has been shown to be autosomal dominantly inherited with reduced penetrance in chromosome 9q34.1, especially in Ashkenazi Jewish families, while other generalized families from Europe and families with other subtypes of dystonia have been excluded from linkage to this locus. Genealogical studies suggest that the much more frequent focal dystonia follows an autosomal dominant inheritance with reduced penetrance as well. For our study, 488 patients with focal dystonia, without a tendency for generalization, were interviewed for their family history. Evidence for hereditary disposition was found in 88 individuals. In a second step, all available family members of 17 of the 488 index patients (chosen for cooperation) were clinically examined. Objective diagnosis of affected relatives was established in 13 families, whereas only 4 of the 17 index patients had previously admitted a positive family history. Furthermore, a large threegeneration family with focal dystonia linked to chromosome 18p (linkage data described elsewhere) was identified. The familial pattern of all reported families is compatible with autosomal dominant inheritance with reduced penetrance. Assessment only on patients' report leads to underestimation of the frequency of familial idiopathic focal dystonia.
This paper references
J. Jankovic (1991)
Electron transfer complex I defect in idiopathic dystonia
R. Benecke (1992)
Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance
D. Pauls (1990)
Additional data and summary for albumin-Ge linkage in man.
L. Weitkamp (1970)
The torsion dystonias
R. Eldridge (1970)
Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q
T. Nygaard (1993)
Epidemiology of dystonia in Rochester, Minnesota.
J. Nutt (1988)
Human gene for torsion dystonia located on chromosome 9q32-q34
L. Ozelius (1989)
ENZYMATIC OR PHARMACOLOGICAL FIBRINOLYSIS?
M. Marshall (1964)
Torsion dystonia in Panay, Philippines.
Lee Lv (1976)
Spread of symptoms in idiopathic torsion dystonia
P. Greene (1995)
Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia.
G. Defazio (1993)
Evidence for locus heterogeneity in autosomal dominant torsion dystonia.
F. Ahmad (1993)
Variable onset of adult inherited focal dystonia: A problem for genetic studies
S. Micheli (1994)
Blepharospasm and cranial-cervical dystonia (Meige's syndrome): familial occurrence.
J. Jankovic (1988)
DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).
U. Mueller (1994)
A genetic study of idiopathic torsion dystonia in the United Kingdom.
N. Fletcher (1990)
T. Nygaard (1990)
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
S. Bressman (1989)
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34
Patricia L. Kramer (1990)
Adult onset familial cervical dystonia: Report of a family including monozygotic twins
R. Uitti (1993)
Concept and classification of dystonia.
S. Fahn (1988)
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
H. Ichinose (1994)
A genetic study of idiopathic focal dystonias
H. M. Waddy (1991)
Autosomal dominant torsion dystonia in a Swedish family.
L. Forsgren (1988)
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)
Inheritance of idiopathic torsion dystonia among Jews.
N. Zilber (1984)
A WRY-NECKED FAMILY.
J. Thompson (1896)
Progressiver Torsionsspasmus bei Kindern
E. Flatau (1911)
FamiIial spasmodic torticolIis
G. Gilbert (1977)
Tolcapone: COMT inhibition for the treatment of Parkinson's disease.
S. Fahn (1998)
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
P. Knappskog (1995)
This paper is referenced by
Clinical and genetic evaluation in a French population presenting with primary focal dystonia
Claire-Marie Dhaenens (2005)
Comparing endophenotypes in adult‐onset primary torsion dystonia
D. Bradley (2010)
Phenotypes and genetic architecture of focal primary torsion dystonia
J. Groen (2012)
Sun exposure is an environmental factor for the development of blepharospasm
A. Molloy (2015)
Case‐control study of risk factors for spasmodic dysphonia: A comparison with other voice disorders
Kristine Tanner (2012)
Development and validation of a clinical guideline for diagnosing blepharospasm
G. Defazio (2013)
Genetic evaluation in hereditary dystonia
Christine Klein (2012)
Dystonia and Muscle Spindles: The Link in Idiopathic Focal Dystonias
R. Grünewald (2012)
Sensory abnormalities in unaffected relatives in familial adult-onset dystonia
J. O'Dwyer (2005)
Relative risk of spread of symptoms among the focal onset primary dystonias
E. Weiss (2006)
MOLECULAR BASIS OF PATHOGENESIS OF DYSTONIA AMONG INDIAN PATIENTS
Subhajit Giri (2018)
Inter‐rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)
E. Storey (2004)
Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives
R. Walsh (2007)
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland
L. Williams (2017)
The non-motor syndrome of primary dystonia: clinical and pathophysiological implications.
M. Stamelou (2012)
The Environmental Epidemiology of Primary Dystonia
G. Defazio (2013)
Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.
D. Bradley (2009)
Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.
I. Rubio-Agustí (2013)
Association of HLA Class II alleles and haplotypes with cervical dystonia: HLA DR13-DQ6 (DQB1*0604) homozygotes are at greatly increased risk of cervical dystonia in Caucasian Americans
P. Deitiker (2011)
Epidemiology of primary dystonia
G. Defazio (2004)
Clinical and genetic characterization of a large Dutch family with primary focal dystonia
M. Contarino (2008)
The focal dystonias: Current views and challenges for future research
H. Jinnah (2013)
Search for a founder mutation in idiopathic focal dystonia from Northern Germany.
C. Klein (1998)
Validity of family history data on primary adult-onset dystonia.
D. Martino (2004)
Do primary adult-onset focal dystonias share aetiological factors?
G. Defazio (2007)
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
J. Phukan (2011)
Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype
D. Bradley (2011)
Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia
G. Defazio (2012)
The genetics of dystonia: new twists in an old tale
G. Charlesworth (2013)
M. LeDoux (2012)
Prevalence study of primary dystonia in Iceland
H. Asgeirsson (2006)
Onset and progression of primary torsion dystonia in sporadic and familial cases
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