Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population

Clin Genet. 1993 Apr;43(4):207-11. doi: 10.1111/j.1399-0004.1993.tb04450.x.


A genetic epidemiologic analysis of early onset cerebellar ataxias (EOCA) with retained tendon reflexes was performed in a defined area of Northwestern Italy. Forty cases diagnosed from 1940 to 1990 were ascertained. The ascertainment probability was 85.7%. The segregation analysis (Weinberg's proband method and 'singles' method under incomplete ascertainment) is compatible with autosomal recessive inheritance. The point prevalence ratio was 1.0/100,000 population. The birth incidence rate was 1/48,000 live births. Gene frequency was estimated to be 1/218. The ratio of first-cousin marriages among parents of EOCA (4.5%) was lower than expected using Dahlberg's formula (8.9%).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cerebellar Ataxia / epidemiology*
  • Cerebellar Ataxia / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Gene Frequency*
  • Humans
  • Incidence
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Prevalence
  • Reflex, Stretch / genetics*