Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family

Authors

  • Paolo Moretti MD,

    1. Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
    Current affiliation:
    1. Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston TX
    Search for more papers by this author
  • Peter Hedera MD,

    1. Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
    Current affiliation:
    1. Department of Neurology, Vanderbilt University, Nashville TN
    Search for more papers by this author
  • John Wald MD,

    1. Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
    Search for more papers by this author
  • John Fink MD

    Corresponding author
    1. Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
    2. Geriatric Research Education Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, Michigan, USA
    • Department of Neurology, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109
    Search for more papers by this author

Abstract

We describe the clinical features of a brother and sister with non–dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). © 2004 Movement Disorder Society

Ancillary