Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder?
Identifieur interne : 004906 ( Ncbi/Curation ); précédent : 004905; suivant : 004907Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder?
Auteurs : C H Adler [États-Unis] ; L. Wrabetz ; M F Brin ; H I HurtigSource :
- Movement disorders : official journal of the Movement Disorder Society [ 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.
DOI: 10.1002/mds.870090205
PubMed: 8196675
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