Cognitive Profile of Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome

Jim Grigsby, Angela G. Brega, Karen Engle, Maureen A. Leehey, Randi J Hagerman, Flora Tassone, David R Hessl, Paul J Hagerman, Jennifer B. Cogswell, Rachael E. Bennett, Kylee Cook, Deborah A. Hall, Lanee S. Bounds, Marsha J. Paulich, Ann Reynolds

Research output: Contribution to journalArticle

127 Citations (Scopus)

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and cognitive impairment. The study was designed to define the nature of cognitive deficits affecting male premutation carriers with and without FXTAS. A sample of 109 men underwent motor, cognitive, genetic, and neurologic testing, as well as brain magnetic resonance imaging. Subjects were classified into 3 groups: (a) asymptomatic premutation carriers, (b) premutation carriers with FXTAS, and (c) normal controls. Men with FXTAS performed worse than controls on mental status, intelligence, executive cognitive functioning (ECF), working memory, remote recall of information, declarative learning and memory, information processing speed, and temporal sequencing, as well as 1 measure of visuospatial functioning. Language and verbal comprehension were spared. Asymptomatic carriers performed worse than controls on ECF and declarative learning and memory. This comprehensive examination of cognitive impairment in male premutation carriers suggests that FXTAS involves substantial executive impairment and diffuse deficits in other cognitive functions. Longitudinal research currently underway will provide insight into the progression of the disorder.

Original languageEnglish (US)
Pages (from-to)48-60
Number of pages13
JournalNeuropsychology
Volume22
Issue number1
DOIs
StatePublished - Jan 2008

Fingerprint

Gait Ataxia
Learning
Executive Function
Genetic Testing
Parkinsonian Disorders
Peripheral Nervous System Diseases
Tremor
Intelligence
Automatic Data Processing
Short-Term Memory
Cognition
Nervous System
Language
Magnetic Resonance Imaging
Fragile X Tremor Ataxia Syndrome
Brain
Research
Cognitive Dysfunction

Keywords

  • cognition
  • executive cognitive function
  • fragile X
  • premutation
  • trinucleotide repeats

ASJC Scopus subject areas

  • Biological Psychiatry
  • Neuropsychology and Physiological Psychology

Cite this

Cognitive Profile of Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome. / Grigsby, Jim; Brega, Angela G.; Engle, Karen; Leehey, Maureen A.; Hagerman, Randi J; Tassone, Flora; Hessl, David R; Hagerman, Paul J; Cogswell, Jennifer B.; Bennett, Rachael E.; Cook, Kylee; Hall, Deborah A.; Bounds, Lanee S.; Paulich, Marsha J.; Reynolds, Ann.

In: Neuropsychology, Vol. 22, No. 1, 01.2008, p. 48-60.

Research output: Contribution to journalArticle

Grigsby, J, Brega, AG, Engle, K, Leehey, MA, Hagerman, RJ, Tassone, F, Hessl, DR, Hagerman, PJ, Cogswell, JB, Bennett, RE, Cook, K, Hall, DA, Bounds, LS, Paulich, MJ & Reynolds, A 2008, 'Cognitive Profile of Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome', Neuropsychology, vol. 22, no. 1, pp. 48-60. https://doi.org/10.1037/0894-4105.22.1.48
Grigsby, Jim ; Brega, Angela G. ; Engle, Karen ; Leehey, Maureen A. ; Hagerman, Randi J ; Tassone, Flora ; Hessl, David R ; Hagerman, Paul J ; Cogswell, Jennifer B. ; Bennett, Rachael E. ; Cook, Kylee ; Hall, Deborah A. ; Bounds, Lanee S. ; Paulich, Marsha J. ; Reynolds, Ann. / Cognitive Profile of Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome. In: Neuropsychology. 2008 ; Vol. 22, No. 1. pp. 48-60.
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