title: Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
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.
authors.affiliation: University of Colorado Health Sciences Center, Denver, CO 80262, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Hall
authors.forename: E
authors.initials: E
authors.lastname: Berry-Kravis
authors.forename: S
authors.initials: S
authors.lastname: Jacquemont
authors.forename: C D
authors.initials: CD
authors.lastname: Rice
authors.forename: J
authors.initials: J
authors.lastname: Cogswell
authors.forename: L
authors.initials: L
authors.lastname: Zhang
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: P J
authors.initials: PJ
authors.lastname: Hagerman
authors.forename: M A
authors.initials: MA
authors.lastname: Leehey
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D001284:Atrophy / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000706:statistics & numerical data*; D005192:Family Health; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics; D020234:Gait Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005820:Genetic Testing; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D020521:Stroke / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014202:Tremor / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology