title: Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
abstract: Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/(epsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol-sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Koukouni
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Carla
authors.initials: C
authors.lastname: Cordivari
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009207:Myoclonus / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D055815:Young Adult
chemical_list: D049031:Sarcoglycans; D001120:Arginine