Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
Identifieur interne : 008D97 ( Main/Merge ); précédent : 008D96; suivant : 008D98Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
Auteurs : Adler [États-Unis] ; Lawrence Wrabetz [États-Unis] ; Mitchell F. Brin [États-Unis] ; Howard I. Hurtig [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 1994.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Dystonia, Spinocerebellar Degenerations.
- genetics : Dystonia, Spinocerebellar Degenerations.
- pathology : Brain.
- Adult, Aged, Female, Humans, Magnetic Resonance Imaging, Neurologic Examination, Pedigree, Phenotype.
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.
Url:
DOI: 10.1002/mds.870090205
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<front><div type="abstract" xml:lang="en">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.</div>
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