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  • Title: Ataxia without telangiectasia masquerading as benign hereditary chorea.
    Author: Klein C, Wenning GK, Quinn NP, Marsden CD.
    Journal: Mov Disord; 1996 Mar; 11(2):217-20. PubMed ID: 8684395.
    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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