Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
✍ Scribed by Dr. Charles H. Adler; Lawrence Wrabetz; Mitchell F. Brin; Howard I. Hurtig
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 983 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
✦ Synopsis
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.