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Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype–genotype correlation

✍ Scribed by Nathalie Kubis; Alexandra Dürr; Michel Gugenheim; Hervé Chneiweiss; Pilar Mazzetti; Alexis Brice; Pierre Bouche

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
101 KB
Volume
22
Category
Article
ISSN
0148-639X

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✦ Synopsis

Autosomal dominant cerebellar ataxias (ADCAs) are clinically and genetically heterogeneous neurodegenerative disorders. The aim of this study was to evaluate electrophysiologically peripheral nervous system involvement in each of the groups studied and its correlation with the number of CAG repeats. Forty patients with ADCA were clinically and electrophysiologically investigated. Thirty-five patients belonged to the ADCA type I group (SCA1, 12; SCA2, 10; SCA3, 13) and five to the ADCA type II group. Axonal sensory or sensorimotor polyneuropathy was found in 42% of the SCA1 patients, 80% of the SCA2 patients, and 54% of the SCA3 patients, whereas electrophysiological studies were normal in all those with ADCA type II. The number of CAG repeats was significantly higher in SCA1 patients with polyneuropathy than in those without polyneuropathy (P = 0.01), whereas the reverse was observed in SCA3/MJD (Machado-Joseph disease) patients (P = 0.05). We conclude that axonal polyneuropathy is often associated with ADCA type I, but its frequency varies according to factors such as the locus responsible and the number of CAG repeats.

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