Ataxia without telangiectasia masquerading as benign hereditary chorea
Identifieur interne : 003C02 ( Istex/Checkpoint ); précédent : 003C01; suivant : 003C03Ataxia without telangiectasia masquerading as benign hereditary chorea
Auteurs : C. Klein [Royaume-Uni] ; G. K. Wenning [Royaume-Uni] ; N. P. Quinn [Royaume-Uni] ; Marsden [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1996-03.
English descriptors
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.
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DOI: 10.1002/mds.870110217
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ISTEX:7457DC969788BCD04B1399355C7BF6C842149FD4Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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