Document Detail

Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.
MedLine Citation:
PMID:  9399227     Owner:  NLM     Status:  MEDLINE    
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 relative was established in 13 families, whereas only 4 of the 17 index patients had previously admitted a positive family history. Furthermore, a large three-generation 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.
B Leube; K R Kessler; T Goecke; G Auburger; R Benecke
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  12     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1998-02-10     Completed Date:  1998-02-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1000-6     Citation Subset:  IM    
Department of Neurology, Heinrich-Heine-Universitat, Düsseldorf, Germany.
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MeSH Terms
Age of Onset
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 18 / genetics
Dystonia / epidemiology,  genetics*
Linkage (Genetics)
Middle Aged

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