Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population
- 1 April 1993
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 43 (4) , 207-2011
- https://doi.org/10.1111/j.1399-0004.1993.tb04450.x
Abstract
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 1.0/100000 population. The birth incidence rate was 1/48000 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%).Keywords
This publication has 12 references indexed in Scilit:
- EARLY ONSET CEREBELLAR ATAXIA WITH RETAINED TENDON REFLEXESBrain, 1991
- HEREDITARY ATAXIAS AND PARAPLEGIAS IN CANTABRIA, SPAINBrain, 1991
- Friedreich's ataxia: a descriptive epidemiological study in an Italian populationClinical Genetics, 1990
- Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.Journal of Neurology, Neurosurgery & Psychiatry, 1990
- Early-onset cerebellar ataxia with retained tendon reflexesActa Neurologica Scandinavica, 1989
- Calculating Confidence Intervals for Rates and RatiosNeuroepidemiology, 1983
- Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.Journal of Neurology, Neurosurgery & Psychiatry, 1981
- The ‘singles’ method for segregation analysis under incomplete ascertainmentAnnals of Human Genetics, 1979
- A SPINOCEREBELLAR DEGENERATION WITH X-LINKED INHERITANCEBrain, 1979