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Intern Med. 2012;51(20):2953-5. Epub 2012 Oct 15.

Spinocerebellar ataxia type 7: report of a new Italian family.

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  • 1IRCCS Centro Neurolesi Bonino Pulejo, Italy. domenicoitaliano@hotmail.com

Abstract

Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49-year-old man presenting with ataxia with progressive gait disturbances, clumsiness and visual impairment. A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. In this family, the disease is most likely caused by a de novo expansion of a premutated intermediate allele carried by one parent.

PMID:
23064575
[PubMed - indexed for MEDLINE]
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