Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype- genotype correlation

Nathalie Kubis, Alexandra Dürr, Michel Gugenheim, Hervé Chneiweiss, Pilar Mazzetti, Alexis Brice, Pierre Bouche

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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.

Original languageEnglish
Pages (from-to)712-717
Number of pages6
JournalMuscle and Nerve
Issue number6
StatePublished - Jun 1999


  • Autosomal dominant cerebellar ataxia
  • Electrophysiological study
  • Phenotype-genotype correlation
  • Polyneuropathy
  • Spinocerebellar ataxia
  • Types I and II


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