Article Text
Statistics from Altmetric.com
Boys with the fragile X syndrome are mentally retarded while individuals of both sexes who carry the premutation alleles (55–200 CGG repeats) of the fragile X–mental retardation 1 (FMR1 (OMIM 309550)) gene are not retarded. Recently, a late onset progressive neurodegenerative disorder “fragile X associated tremor/ataxia syndrome” (FXTAS) has been reported in elderly men and only very rarely in women with the premutation.
Although dementia was found in 20% of males with FXTAS, this complication has not yet been reported in female carriers.
We report a female with the FMR1 premutation and typical clinical and radiological features of FXTAS who had associated dementia.
Individuals who carry the premutation alleles (55–200 CGG repeats) of the FMR1 gene differ from boys who carry the mutation as the majority have normal intelligence.1 Recently, it was found that some male carriers aged 50–70 years suffer from progressive intention tremor, gait ataxia and mild parkinsonism. Additional clinical features are memory and executive function deficits, peripheral neuropathy, anxiety, labile mood, depression and gradual cognitive decline.2–4 Following those observations the …
Footnotes
Competing interests: None.
Patient consent: Informed consent was obtained for publication of the case details in this report.