Journal
CEREBELLUM
Volume 8, Issue 1, Pages 22-27Publisher
SPRINGER
DOI: 10.1007/s12311-008-0055-7
Keywords
Dystonia; Ataxia telangiectasia; Atypical presentation; ATM protein; Radiosensitivity; Oromandibular/oro-bulbar
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Funding
- Brain Research Trust, UK
- Cancer Research UK
- Ataxia Telangiectasia Society of UK
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Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of dystonia with onset at age 15, in the absence of gross gait imbalance or ocular motor apraxia. Dystonia was generalized and with prominent oromandibular involvement. Unusually, a leash of telangiectasia was present on the posterior pharyngeal wall, while other features frequently associated with A-T were absent.
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