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

Charles Howard Adler, L. Wrabetz, M. F. Brin, H. I. Hurtig

Research output: Contribution to journalArticle

8 Citations (Scopus)

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
StatePublished - 1994

Fingerprint

Cerebellar Ataxia
Inborn Genetic Diseases
Dystonia
Tremor
Mothers
Phenotype
Siblings
Inheritance Patterns
Ataxia
Neurodegenerative Diseases
Mutation
Genes

Keywords

  • Ataxia
  • Cerebellar disorder
  • Dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Cerebellar ataxia, dystonia, and tremor within a family : Variable phenotypes of a single genetic disorder? / Adler, Charles Howard; Wrabetz, L.; Brin, M. F.; Hurtig, H. I.

In: Movement Disorders, Vol. 9, No. 2, 1994, p. 155-160.

Research output: Contribution to journalArticle

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