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 wa...
Topics
- Adolescent
- Adult
- Female
- Follow-Up Studies
- Genetic Carrier Screening
- Humans
- Male
- Middle Aged
- Neurologic Examination
- Phenotype
- Reflex, Stretch
- Spinocerebellar Degenerations