Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome

• Published in: General hospital psychiatry Vol. 29; no. 4; pp. 349 - 356
• Main Authors: Bourgeois, James A., Cogswell, Jennifer B., Hessl, David, Zhang, Lin, Ono, Michele Y., Tassone, Flora, Farzin, Faraz, Brunberg, James A., Grigsby, Jim, Hagerman, Randi J.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.07.2007; Elsevier Science
• Subjects: Adult and adolescent clinical studies; Aged; Anxiety - epidemiology; Anxiety disorder; Ataxia; Biological and medical sciences; California - epidemiology; Cognition Disorders - epidemiology; Comorbidity; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dementia; Fragile X premutation; Fragile X Syndrome - physiopathology; FXTAS; Humans; Male; Medical sciences; Middle Aged; Miscellaneous; Mood disorder; Mood Disorders - epidemiology; Neurology; Psychiatry; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Tremor; California; Mood disorder; Fragile X premutation; FXTAS; Anxiety disorder; Dementia; Chromosome fragility; Cognitive disorder; Fragile X-associated tremor/ataxia syndrome; Male; Involuntary movement; Adult; Ataxia; Degenerative disease; Diagnosis; Neurological disorder; Motricity; Human; Nervous system diseases; Tremor; Motor control; Cerebral disorder; Senile dementia; Concomitant disease; Central nervous system disease; Clinical investigation; Fragile X syndrome; Elderly
• ISSN: 0163-8343; 1873-7714
• DOI: 10.1016/j.genhosppsych.2007.03.003

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. Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. 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.