Inherited myoclonus-dystonia
2002; Lippincott Williams & Wilkins; Volume: 59; Issue: 8 Linguagem: Inglês
10.1212/wnl.59.8.1130
ISSN1526-632X
AutoresYoshiaki Furukawa, Ali H. Rajput,
Tópico(s)Genetic Neurodegenerative Diseases
ResumoInherited myoclonus-dystonia (M-D)1 is a relatively new term used to describe patients diagnosed previously with “hereditary essential myoclonus” or “hereditary (alcohol-responsive) myoclonic dystonia”.1,2⇓ Clinical characteristics of this autosomal-dominant disorder (table 1) include myoclonic jerks affecting predominantly the neck, shoulders, and arms and dystonic symptoms, mainly torticollis and writer’s cramp. In addition to these involuntary movements, psychiatric problems (e.g., alcohol abuse, obsessive-compulsive disorder, and panic attacks) have often been noted in M-D families.3 View this table: Table 1 Clinical characteristics of inherited myoclonus-dystonia 1 Recently, Zimprich et al.3 identified five independent heterozygous loss-of-function mutations in the e-sarcoglycan ( SGCE ) gene (chromosome location, 7q21) in six German families with M-D. The sarcoglycans are transmembrane components of the dystrophin-glycoprotein complex, and mutations in four other known sarcoglycan genes have been found in patients with limb-girdle muscular dystrophy.4 Although many other M-D families have supported linkage to the locus on chromosome 7q21,3 in this issue of Neurology , Grimes et al.5 map a new locus for the disorder to a 17-cM region on chromosome 18p11 in a …
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