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Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype–genotype correlation
Author(s) -
Kubis Nathalie,
Dürr Alexandra,
Gugenheim Michel,
Chneiweiss Hervé,
Mazzetti Pilar,
Brice Alexis,
Bouche Pierre
Publication year - 1999
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199906)22:6<712::aid-mus7>3.0.co;2-0
Subject(s) - polyneuropathy , degenerative disease , machado–joseph disease , genotype , chronic inflammatory demyelinating polyneuropathy , cerebellar ataxia , locus (genetics) , spinocerebellar ataxia , medicine , central nervous system disease , pathology , ataxia , biology , genetics , disease , neuroscience , gene , antibody
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. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 712–717, 1999.