Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

ABSTRACT:

Background

The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset.

Methods

We combined data from two major European cohorts of SCA1, SCA2, SCA3, and SCA6 mutation carriers: 1187 affected individuals from the EUROSCA registry and 123 preclinical individuals from the RISCA cohort. For each SCA genotype, a regression model was fitted using a log-normal distribution for age at onset with the repeat length of the alleles as covariates. From these models, we calculated expected age at onset from birth

SUBMITTER: Tezenas du Montcel S 

PROVIDER: S-EPMC4078703 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature