Ataxia without telangiectasia masquerading as benign hereditary chorea

C. Klein; G. K. Wenning; N. P. Quinn; C. D. Marsden

doi:10.1002/mds.870110217

Ataxia without telangiectasia masquerading as benign hereditary chorea

C. Klein, G. K. Wenning, N. P. Quinn, C. D. Marsden^*

^*Corresponding author for this work

Institute of Neurogenetics

University of London

48 Citations (Scopus)

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.

Original language	English
Journal	Movement Disorders
Volume	11
Issue number	2
Pages (from-to)	217-220
Number of pages	4
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.870110217
Publication status	Published - 25.03.1996

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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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AU - Klein, C.

AU - Wenning, G. K.

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Y1 - 1996/3/25

N2 - 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.

AB - 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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Ataxia without telangiectasia masquerading as benign hereditary chorea

Abstract

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