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Frgaile X-associated tremor/ataxia syndreom (FXTAS) is a newly described disorder that occurs in permutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, demtia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS. |
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