Article
Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.
Cerebellum (London, England) - 1 Oct 2016
Rodriguez-Revenga Laia, Pagonabarraga Javier, Gómez-Anson Beatriz, López-Mourelo Olga, Izquierdo Silvia, Alvarez-Mora Maria Isabel, Granell Esther, Madrigal Irene, Milà Montserrat
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers. The prevalence of FMR1 premutation carriers in the general population is relatively high, and although rare, a premutation in both X chromosomes may occur in females inheriting a premutation allele from each of both parent carriers. Here, we report the first female with an...
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