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- W2108135904 abstract "OBJECTIVE: To describe new phenotypic characteristics observed in a series of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS). BACKGROUND: FXTAS is caused by an expansion in the 59 trinucleotide CGG repeat of the fragile X mental retardation 1 (FMR1) gene. Clinical manifestations include kinetic tremor, cerebellar ataxia, cognitive decline, psychiatric problems and parkinsonism. DESIGN/METHODS: We conducted a retrospective chart review of patients seen in the Fragile X Carrier clinic at Rush University between 2009-2014. Patients who had between 55-200 CGG repeats and for whom clinical data was complete were included for analysis. Data collected included age, sex, FMR1 premutation size, FXTAS diagnosis (possible, probable, or definite), eye movement abnormalities, neuropathic signs, cognitive status, neuropsychiatric signs, FXTAS Rating Scale (FXTAS-RS) score, MRI findings, and family history of fragile X disorders. RESULTS: Nineteen patients with complete clinical data (38[percnt] of whom were women) were included. For each category of FXTAS diagnosis, FXTAS-RS and repeat sizes were as follows. Definite FXTAS patients had FXTAS-RS between 30-75 and CGG between 74-124. Probable FXTAS patients had FXTAS-RS between 17-81 and CGG between 55-120. Possible FXTAS patients had FXTAS-RS between 7-41 and CGG between 85-120. Unexpectedly, five patients had abnormal eye movements similar to those seen in progressive supranuclear palsy (PSP), and two patients met diagnostic criteria for PSP. Two additional patients who suffered a rapidly progressive decline of their FXTAS signs were found to have focal spinal cord disease. CONCLUSIONS: This case series yields new information about the FXTAS phenotype. Patients with FXTAS may present with a PSP-like phenotype. Rapid progression of gait ataxia in FXTAS may warrant investigation for an additional spinal cord pathology. Additionally, the FXTAS Rating Scale may not be informative regarding diagnosis.Study Supported by: Not Applicable. Disclosure: Dr. Fraint has nothing to disclose. Dr. Vittal has nothing to disclose. Dr. Szewka has nothing to disclose. Dr. Bernard has received research support from the Parkinson9s Disease Foundation. Dr. Berry-Kravis has received personal compensation for activities with Seaside Therapeutics, Novartis, Roche, Neuren Pharmaceuticals, and Alcobra Pharma as a consultant. Dr. Hall has nothing to disclose." @default.
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- W2108135904 date "2015-04-06" @default.
- W2108135904 modified "2023-09-24" @default.
- W2108135904 title "New observations in the fragile-X associated tremor/ataxia syndrome (FXTAS) phenotype (P3.003)" @default.
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