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A genetic study of idiopathic focal dystonias
Author(s) -
Waddy H. M.,
Fletcher N. A.,
Harding A. E.,
Marsden C. D.
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410290315
Subject(s) - dystonia , penetrance , focal dystonia , torticollis , medicine , spasmodic torticollis , cervical dystonia , pediatrics , age of onset , surgery , genetics , biology , psychiatry , gene , phenotype , disease
A genetic study of idiopathic focal dystonias was undertaken by examining 153 first‐degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now deceased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.