Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
Article first published online: 12 OCT 2004
Copyright © 1994 Movement Disorder Society
Volume 9, Issue 2, pages 155–160, 1994
How to Cite
Adler, C. H., Wrabetz, L., Brin, M. F. and Hurtig, H. I. (1994), Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?. Mov. Disord., 9: 155–160. doi: 10.1002/mds.870090205
- Issue published online: 12 OCT 2004
- Article first published online: 12 OCT 2004
- Cerebellar disorder
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.