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Article

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.

European neurology - 1 Oct 1998

Malandrini A, Galli L, Villanova M, Palmeri S, Parrotta E, DeFalco D, Cappelli M, Grieco G S, Renieri A, Guazzi G

Abstract excerpt

We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic...

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PMID: 9748675
DOI: 10.1159/000007974

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