Psychiatric Phenotype of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in Males: Newly Described Fronto-Subcortical Dementia
J Clin Psychiatry 2006;67:87-94
© Copyright 2014 Physicians Postgraduate Press, Inc.
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Objective: The authors describe and
quantify the neuropsychiatric symptoms present in a
cohort of males with the fragile X mental retardation 1
(FMR1) premutation allele who have developed fragile X-associated
tremor/ataxia syndrome (FXTAS).
Method: Fourteen male carriers of the
FMR1 premutation who had clinical manifestations
of the FXTAS syndrome and 14 age- and education-matched controls were assessed with the
Neuropsychiatric Inventory (NPI), formal cognitive testing, and genetic analysis.
Results: Males with FXTAS had
significantly higher total NPI scores (p < .004) and
significantly higher scores on the
agitation/aggression (p < .004), depression (p < .004), apathy
(p < .004), disinhibition (p < .004), and irritability
(p < .004) scales, compared with controls. Cognitive
performances on the Mini-Mental State Examination did not correlate with severity of symptoms
on the NPI.
Conclusions: The neuropsychiatric
manifestations of FXTAS, based on this preliminary
report, appear to cluster as a fronto-subcortical
dementia. Clinicians encountering patients with
clinical dementia with motor symptoms suggesting FXTAS should consider genetic testing to
determine whether the patient's dementia syndrome
is secondary to a fragile X premutation carrier