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

D. A. Hall, E. Berry-Kravis, S. Jacquemont, C. D. Rice, J. Cogswell, Lin Zhang, Randi J Hagerman, Paul J Hagerman, Maureen A. Leehey

Research output: Contribution to journalArticle

86 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)299-301
Number of pages3
JournalNeurology
Volume65
Issue number2 SUPPL. 1
DOIs
StatePublished - Jul 26 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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