Journal
NEUROLOGY
Volume 65, Issue 2, Pages 299-301Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000168900.86323.9c
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Funding
- NICHD NIH HHS [HD36071] Funding Source: Medline
- NINDS NIH HHS [NS43532] Funding Source: Medline
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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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