Ataxia without telangiectasia masquerading as benign hereditary chorea
- 1 March 1996
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 11 (2), 217-220
- https://doi.org/10.1002/mds.870110217
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.Keywords
This publication has 15 references indexed in Scilit:
- Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.Journal of Medical Genetics, 1993
- Ataxia without telangiectasiaMovement Disorders, 1993
- Clinical, Cytogenetic and Immunological Aspects in 4 Cases Resembling Ataxia TelangiectasiaEuropean Neurology, 1992
- Benign Hereditary Chorea a Case ReportThe British Journal of Psychiatry, 1988
- Benign (non-paroxysmal) familial chorea. Paediatric perspectives.Archives of Disease in Childhood, 1981
- Familial nonprogressive involuntary movements of childhoodAnnals of Neurology, 1977
- ATAXIA-TELANGIECTASIAMedicine, 1972
- Benign, recessively inherited choreo-athetosis of early onset.Journal of Medical Genetics, 1969
- Familial benign chorea with intention tremor: A clinical entityThe Journal of Pediatrics, 1967
- Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleuxStereotactic and Functional Neurosurgery, 1941