Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome.
OBJECTIVE
We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene.


METHODS
Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS.


RESULTS
Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing.


CONCLUSIONS
Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.
Bourgeois
James A
JA
Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California-Davis, Sacramento, CA 95817, USA. james.bourgeois@ucdmc.ucdavis.edu
Cogswell
Jennifer B
JB
Hessl
David
D
Zhang
Lin
L
Ono
Michele Y
MY
Tassone
Flora
F
Farzin
Faraz
F
Brunberg
James A
JA
Grigsby
Jim
J
Hagerman
Randi J
RJ
D000368:Aged; D001007:Anxiety / Q000453:epidemiology*; D001259:Ataxia; D002140:California / Q000453:epidemiology; D003072:Cognition Disorders / Q000453:epidemiology*; D015897:Comorbidity; D005600:Fragile X Syndrome / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000453:epidemiology*; D014202:Tremor