title: Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.
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).
  
  
  METHODS
  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.
authors.affiliation: M.I.N.D. Institute, and Departments of Psychiatry and Behavioral Sciences, UCDavis Medical Center, University of California-Davis, 2230 Stockton Boulevard, Sacramento, CA 95817, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Bacalman
authors.forename: Faraz
authors.initials: F
authors.lastname: Farzin
authors.forename: James A
authors.initials: JA
authors.lastname: Bourgeois
authors.forename: Jennifer
authors.initials: J
authors.lastname: Cogswell
authors.forename: Beth L
authors.initials: BL
authors.lastname: Goodlin-Jones
authors.forename: Louise W
authors.initials: LW
authors.lastname: Gane
authors.forename: Jim
authors.initials: J
authors.lastname: Grigsby
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Leehey
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000368:Aged; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D003704:Dementia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010555:Personality Inventory; D010641:Phenotype; D011569:Psychiatric Status Rating Scales; D012720:Severity of Illness Index; D012737:Sex Factors; D013577:Syndrome; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D014888:Wechsler Scales
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human