Exclusion of the DYT1 locus in familial torticollis

S. B. Bressman, T. T. Warner, L. Almasy, R. J. Uitti, P. E. Greene, G. A. Heiman, D. Raymond, B. Ford, D. De Leon, S. Fahn, P. L. Kramer, N. J. Risch, D. M. Maraganore, T. G. Nygaard, A. E. Harding

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    55 Scopus citations

    Abstract

    Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb- onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult- onset ITD limited to the cervical and brachial muscles and excluded the DYT1- containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult- onset ITD.

    Original languageEnglish (US)
    Pages (from-to)681-684
    Number of pages4
    JournalAnnals of neurology
    Volume40
    Issue number4
    DOIs
    StatePublished - Oct 1996

    ASJC Scopus subject areas

    • Neurology
    • Clinical Neurology

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    Bressman, S. B., Warner, T. T., Almasy, L., Uitti, R. J., Greene, P. E., Heiman, G. A., Raymond, D., Ford, B., De Leon, D., Fahn, S., Kramer, P. L., Risch, N. J., Maraganore, D. M., Nygaard, T. G., & Harding, A. E. (1996). Exclusion of the DYT1 locus in familial torticollis. Annals of neurology, 40(4), 681-684. https://doi.org/10.1002/ana.410400421