Article
Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder?
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 1994
Adler C H, Wrabetz L, Brin M F, Hurtig H I
Abstract excerpt
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...
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