✦ LIBER ✦
Ataxia without telangiectasia masquerading as benign hereditary chorea
✍ Scribed by C. Klein; G. K. Wenning; N. P. Quinn; Dr. C. D. Marsden
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 416 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.