Journal
CLINICAL GENETICS
Volume 86, Issue 4, Pages 378-382Publisher
WILEY
DOI: 10.1111/cge.12278
Keywords
fragile X; FXTAS; parkinsonism; unmethylated full mutation
Categories
Funding
- NICHD [HD036071, HD02274]
- MCL, INTA University of Chile
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Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.
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