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Neurology. 2005 Jul 26;65(2):299-301.

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

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  • 1University of Colorado Health Sciences Center, Denver, CO 80262, USA.

Erratum in

  • Neurology. 2005 Sep 13;65(5):784.

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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