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  • Title: Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
    Author: Hall DA, Berry-Kravis E, Jacquemont S, Rice CD, Cogswell J, Zhang L, Hagerman RJ, Hagerman PJ, Leehey MA.
    Journal: Neurology; 2005 Jul 26; 65(2):299-301. PubMed ID: 16043804.
    Abstract:
    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation 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, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.
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