Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
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.
Hall
D A
DA
University of Colorado Health Sciences Center, Denver, CO 80262, USA.
Berry-Kravis
E
E
Jacquemont
S
S
Rice
C D
CD
Cogswell
J
J
Zhang
L
L
Hagerman
R J
RJ
Hagerman
P J
PJ
Leehey
M A
MA
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