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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Age Factors
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Age of Onset
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Aged
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Atrophy / genetics
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Atrophy / pathology
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Cerebellum / pathology
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Cerebellum / physiopathology
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DNA Mutational Analysis
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Diagnosis, Differential
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Diagnostic Errors / statistics & numerical data*
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Family Health
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Female
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Fragile X Syndrome / complications*
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Fragile X Syndrome / genetics
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Gait Ataxia / diagnosis*
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Gait Ataxia / genetics
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Gait Ataxia / physiopathology
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Genetic Testing
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Health Surveys
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Humans
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Male
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Middle Aged
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Parkinson Disease / diagnosis
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Parkinson Disease / pathology
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Parkinson Disease / physiopathology
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Stroke / diagnosis
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Stroke / pathology
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Stroke / physiopathology
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Syndrome
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Tremor / diagnosis*
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Tremor / genetics
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Tremor / physiopathology