Objective: To report two cases of female patients with FXTAS.

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia, caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 (FMR1) gene. FXTAS affects predominantly male premutation carriers partially because of a protective effect of the second X chromosome in females.

Methods: Clinical examination, neuropsychological testing, structural neuroimaging, and DNA analysis were performed in two female patients.

Results: The first case was 71 year old female with progressive gait ataxia, falls, resting and action tremor of upper extremities and head tremor for the last 5 years. Brain MRI showed changes typical for FXTAS. DNA analysis of FMR1 gene showed expansion in CGG repetition on one of the alleles in the promotor region (30/103) within the premutation range. The second case was 49 year old female with progressive cerebellar ataxia. Brain MRI didn’t show any changes typical for FXTAS. DNA analysis revealed 41/64 CGG repeats in the promotor region of FMR1 gene, i.e. one allele falls within the physiological range and the other within premutation range.

Conclusions: Genetic screening for FXTAS premutation carriers should be implemented into the diagnostic process in female patients with atypical clinical presentation of ataxia/tremor syndrome even with normal finding on brain MRI. Supported by the grant: AZV (Czech Republic) No. 15-32715A.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/fragile-x-associated-tremorataxia-syndrome-in-two-female-patients/