Document Detail


Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.
MedLine Citation:
PMID:  16426093     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  The Journal of clinical psychiatry     Volume:  67     ISSN:  0160-6689     ISO Abbreviation:  J Clin Psychiatry     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-01-23     Completed Date:  2006-03-28     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7801243     Medline TA:  J Clin Psychiatry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  87-94     Citation Subset:  IM    
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.
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MeSH Terms
Descriptor/Qualifier:
Aged
Ataxia / diagnosis,  genetics*
Dementia / classification,  diagnosis,  genetics*
Fragile X Mental Retardation Protein / genetics*
Fragile X Syndrome / diagnosis*,  genetics*
Genetic Predisposition to Disease / genetics
Genetic Testing
Heterozygote
Heterozygote Detection
Humans
Male
Middle Aged
Personality Inventory
Phenotype*
Psychiatric Status Rating Scales
Severity of Illness Index
Sex Factors
Syndrome
Tremor / diagnosis,  genetics*
Wechsler Scales
Grant Support
ID/Acronym/Agency:
HD 02274/HD/NICHD NIH HHS; HD 36071/HD/NICHD NIH HHS; NS 044299/NS/NINDS NIH HHS; NS 45352/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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