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Article

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1990

Filla A, De Michele G, Cavalcanti F, Perretti A, Santoro L, Barbieri F, D'Arienzo G, Campanella G

Abstract excerpt

A clinical and genetic study was performed on 20 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA). Mean age at onset was 8.8 (SD 6.0) years. The frequency distribution of age of onset significantly differed from the normal distribution. Consanguinity rate was 16.7% and segregation ratio 0.164. As well as ataxia, which was a constant feature, there were signs of involvement...

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Identifiers

PMID: 2213043
DOI: 10.1136/jnnp.53.8.667
PMCID: PMC488168

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Source receipt: pubmed, retrieved 7 Sept 2026.

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