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

doi:10.1002/mds.870090205

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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 h...

Topics

Adult
Aged
Brain
Dystonia
Female
Humans
Magnetic Resonance Imaging
Neurologic Examination
Pedigree
Phenotype
Spinocerebellar Degenerations

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