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Ataxia without telangiectasia masquerading as benign hereditary chorea
Author(s) -
Klein C.,
Wenning G. K.,
Quinn N. P.,
Marsden C. D.
Publication year - 1996
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870110217
Subject(s) - chorea , ataxia telangiectasia , ataxia , medicine , dermatology , telangiectasia , pediatrics , pathology , genetics , psychiatry , biology , dna , disease , dna damage
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.