Cited by 175Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesDementia and Cognitive Impairment Research

Psychiatric Phenotype of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in Males: Newly Described Fronto-Subcortical Dementia

Bacalman, Susan, Farzin, Faraz, Bourgeois, James A., Cogswell, Jennifer, Goodlin-Jones, Beth L., Gane, Louise W., Grigsby, Jim, Leehey, Maureen A. +2 more·2006·The Journal of Clinical Psychiatry

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.

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Crossref · 10.4088/jcp.v67n0112

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42 of 42 references verified0 citation errors · 0 not checkable

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  • In premutation carriers, shyness, anxiety, social deficits, and ADHD are common, particularly in boys.

    “In PM carriers, shyness, anxiety, social deficits, and ADHD are some of the most common features observed, particularly in boys (29)(30)(31).”

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Authors
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.
Affiliations
  • University of California Davis Medical Center (US)
  • University of California, Davis (US)
  • University of Colorado Health (US)
Venue
The Journal of Clinical Psychiatry
Published
2006-01-15
Volume
67
Issue
01
Pages
87-94
ISSN
0160-6689 (ISSN-L)
OpenAlex
W2077967214
Cited by
175
References
42
Citations by year
2026: 5 · 2025: 4 · 2024: 4 · 2023: 6 · 2022: 5 · 2021: 5 · 2020: 6 · 2019: 7 · 2018: 1 · 2017: 3 · 2016: 17 · 2015: 5 · 2014: 10 · 2013: 11 · 2012: 9
FWCI
9.47
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institute of Neurological Disorders and Stroke (NS 45352, NS 044299, R01NS044299)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 36071, HD 02274, P30HD002274, R01HD036071)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords
fragile X-associated tremor/ataxia syndrome, fragile X premutation, neuropsychiatric symptoms, agitation and aggression, depression, apathy, disinhibition, irritability, male carriers, cognitive impairment, genetic testing
MeSH terms
Aged, Ataxia, Dementia, Fragile X Syndrome, Genetic Testing, Heterozygote, Genetic Carrier Screening, Humans, Male, Middle Aged, Personality Inventory, Phenotype, Psychiatric Status Rating Scales, Severity of Illness Index, Sex Factors, Syndrome, Tremor, Wechsler Scales, Genetic Predisposition to Disease, Fragile X Messenger Ribonucleoprotein 1

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