Article
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
Clinical genetics - 1 Nov 2009
Loesch D Z, Khaniani M S, Slater H R, Rubio J P, Bui Q M, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo A K H, Burgess T, Johnson L, Evans A, Horne M
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 messenger RNA (mRNA), becoming toxic through a 'gain-of-function'....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.