Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?

Charles H. Adler, Lawrence Wrabetz, Mitchell F. Brin, Howard I. Hurtig

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

We report a non‐Jewish, Anglo‐Saxon, American family, in which one sibling has dystonia, a second has cerebellar ataxia, and a third has a combination of dystonia and ataxia. All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.

Original languageEnglish (US)
Pages (from-to)155-160
Number of pages6
JournalMovement Disorders
Volume9
Issue number2
DOIs
StatePublished - 1994

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Keywords

  • Ataxia
  • Cerebellar disorder
  • Dystonia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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