Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
case_series · Level IV
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- Record sourced from PubMed, PMID 16043804.
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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.
Medical subject headings
- Diagnostic Errors
- Fragile X Syndrome
- Gait Ataxia
- Tremor