Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia

Susan Bacalman, Faraz Farzin, James A. Bourgeois, Jennifer Cogswell, Beth L. Goodlin-Jones, Louise W. Gane, Jim Grigsby, Maureen A. Leehey, Flora Tassone, Randi J Hagerman

Research output: Contribution to journalArticle

140 Scopus citations

Abstract

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 status.

Original languageEnglish (US)
Pages (from-to)87-94
Number of pages8
JournalJournal of Clinical Psychiatry
Volume67
Issue number1
StatePublished - Jan 2006

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Clinical Psychology

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    Bacalman, S., Farzin, F., Bourgeois, J. A., Cogswell, J., Goodlin-Jones, B. L., Gane, L. W., Grigsby, J., Leehey, M. A., Tassone, F., & Hagerman, R. J. (2006). Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia. Journal of Clinical Psychiatry, 67(1), 87-94.