The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

The fragile X premutation (PM) allele contains a CGG expansion of 55–200 repeats in the FMR1 gene’s promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (FXTAS). The...

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Bibliographic Details
Main Authors: Danuta Z. Loesch, Nicholas Trost, Minh Q. Bui, Eleanor Hammersley, Sui T. Lay, Sarah J. Annesley, Oana Sanislav, Claire Y. Allan, Flora Tassone, Zhi-Ping Chen, Kevin R. W. Ngoei, Bruce E. Kemp, David Francis, Paul R. Fisher, Elsdon Storey
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Genetics
Subjects:
FMR1 premutation
CGG repeats
FMR1 mRNA
AMPK kinase
cellular stress
motor scores
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00531/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00531/full

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