Neurology. 2001 May 8;56(9):1213-6.

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

Vidailhet M, Tassin J, Durif F, Nivelon-Chevallier A, Agid Y, Brice A, Dürr A.

Source

INSERM U289, Hôpital de la Salpêtrière, Paris, France.

Abstract

Myoclonus--dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes.

PMID:: 11342690; [PubMed - indexed for MEDLINE]

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