Ontology highlight
ABSTRACT:
SUBMITTER: Hoem G
PROVIDER: S-EPMC3090194 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Hoem Gry G Raske Christopher R CR Garcia-Arocena Dolores D Tassone Flora F Sanchez Eleonora E Ludwig Anna L AL Iwahashi Christine K CK Kumar Madhur M Yang Jane E JE Hagerman Paul J PJ
Human molecular genetics 20110309 11
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The presence of elevated levels of expanded mRNA found in premutation carriers is believed to be the basis for the pathogenesis in FXTAS, but the exact mechanisms by which the mRNA causes toxicity are not known. In particular, it is not clear whether there is a threshold for a CGG-repeat number bel ...[more]