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    Ann Neurol. 2002 Oct;52(4):489-92.

    Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

    Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T.

    Source

    Neurologische Klinik Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.

    Abstract

    Mutations in the gene for epsilon-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.

    PMID:
    12325078
    [PubMed - indexed for MEDLINE]

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