Article
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
Molecular genetics & genomic medicine - 1 Nov 2024
Loesch Danuta Z, Chafota Freddy, Bui Minh Q, Storey Elsdon, Atkinson Anna, Martin Nicholas G, Gordon Scott D, Rentería Miguel E, Hagerman Randi J, Tassone Flora
Abstract excerpt
BACKGROUND: Premutation alleles of the FMR1 X-linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late-onset neurological involvements, including most severe disorder termed Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). It is intriguing that at least one-third of male, and a much lower than predicted from the X-linkage proportion of female carriers are free of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.