A GENETIC-STUDY OF IDIOPATHIC FOCAL DYSTONIAS

被引:193
作者
WADDY, HM [1 ]
FLETCHER, NA [1 ]
HARDING, AE [1 ]
MARSDEN, CD [1 ]
机构
[1] UNIV LONDON,INST NEUROL,DEPT CLIN NEUROL,QUEEN SQ,LONDON WC1N 3BG,ENGLAND
关键词
D O I
10.1002/ana.410290315
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页码:320 / 324
页数:5
相关论文
共 18 条
[1]   IDIOPATHIC DYSTONIA AMONG ASHKENAZI JEWS - EVIDENCE FOR AUTOSOMAL DOMINANT INHERITANCE [J].
BRESSMAN, SB ;
DELEON, D ;
BRIN, MF ;
RISCH, N ;
BURKE, RE ;
GREENE, PE ;
SHALE, H ;
FAHN, S .
ANNALS OF NEUROLOGY, 1989, 26 (05) :612-620
[2]   GENETIC STUDY OF TORSION DYSTONIA [J].
BUNDEY, S ;
HARRISON, MJG ;
MARSDEN, CD .
JOURNAL OF MEDICAL GENETICS, 1975, 12 (01) :12-19
[3]  
Burke R E, 1986, Mov Disord, V1, P163, DOI 10.1002/mds.870010302
[4]  
ELDRIDGE R, 1970, NEUROLOGY, V20, P1
[5]  
EMERY AEH, 1986, METHODOLOGY MED GENE, P57
[6]  
FAHN S, 1987, MOVEMENT DISORD, V2, P332
[7]   A GENETIC-STUDY OF IDIOPATHIC TORSION DYSTONIA IN THE UNITED-KINGDOM [J].
FLETCHER, NA ;
HARDING, AE ;
MARSDEN, CD .
BRAIN, 1990, 113 :379-395
[8]   SPONTANEOUS REMISSIONS IN SPASMODIC TORTICOLLIS [J].
FRIEDMAN, A ;
FAHN, S .
NEUROLOGY, 1986, 36 (03) :398-400
[9]   BLEPHAROSPASM - A REVIEW OF 264 PATIENTS [J].
GRANDAS, F ;
ELSTON, J ;
QUINN, N ;
MARSDEN, CD .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (06) :767-772
[10]   BLEPHAROSPASM AND OROFACIAL CERVICAL DYSTONIA - CLINICAL AND PHARMACOLOGICAL FINDINGS IN 100 PATIENTS [J].
JANKOVIC, J ;
FORD, J .
ANNALS OF NEUROLOGY, 1983, 13 (04) :402-411