Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 by Tezenas et al, J Med Genet 2014

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

by Tezenas du Montcel et al (for RISCA and EUROSCA networks). J Med Genet 2014

 

Using two unique cohorts (the EUROSCA and RISCA cohorts) comprised of 1310 individuals recruited at the same European centres, examined by the same clinicians and genotyped in the same centralised laboratory, we were able to estimate the relationship between the number of CAG repeats and the age at onset of gait ataxia in the genes corresponding to the four most frequent polyglutamine ataxia diseases: SCA1, SCA2, SCA3, and SCA6.

 

Follow the link: http://jmg.bmj.com/content/early/2014/04/29/jmedgenet-2013-102200.full

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