Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

Jim Grigsby, Angela G. Brega, Maureen A. Leehey, Glenn K. Goodrich, Sébastien Jacquemont, Danuta Z. Loesch, Jennifer B. Cogswell, Jennifer Epstein, Rebecca Wilson, Tristan Jardini, Emma Gould, Rachael E. Bennett, David R Hessl, Susannah Cohen, Kylee Cook, Flora Tassone, Paul J Hagerman, Randi J Hagerman

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.

Original languageEnglish (US)
Pages (from-to)645-650
Number of pages6
JournalMovement Disorders
Volume22
Issue number5
DOIs
StatePublished - Apr 15 2007

Fingerprint

Gait Ataxia
Trinucleotide Repeat Expansion
Spinocerebellar Ataxias
Frontotemporal Dementia
Aptitude
Parkinsonian Disorders
Peripheral Nervous System Diseases
Tremor
Intelligence
Automatic Data Processing
Intellectual Disability
Cognition
Fragile X Tremor Ataxia Syndrome
Cognitive Dysfunction
Alzheimer Disease
Phenotype
Research
Genes

Keywords

  • Cognition
  • Executive cognitive function
  • Fragile X
  • Premutation
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Grigsby, J., Brega, A. G., Leehey, M. A., Goodrich, G. K., Jacquemont, S., Loesch, D. Z., ... Hagerman, R. J. (2007). Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Movement Disorders, 22(5), 645-650. https://doi.org/10.1002/mds.21359

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. / Grigsby, Jim; Brega, Angela G.; Leehey, Maureen A.; Goodrich, Glenn K.; Jacquemont, Sébastien; Loesch, Danuta Z.; Cogswell, Jennifer B.; Epstein, Jennifer; Wilson, Rebecca; Jardini, Tristan; Gould, Emma; Bennett, Rachael E.; Hessl, David R; Cohen, Susannah; Cook, Kylee; Tassone, Flora; Hagerman, Paul J; Hagerman, Randi J.

In: Movement Disorders, Vol. 22, No. 5, 15.04.2007, p. 645-650.

Research output: Contribution to journalArticle

Grigsby, J, Brega, AG, Leehey, MA, Goodrich, GK, Jacquemont, S, Loesch, DZ, Cogswell, JB, Epstein, J, Wilson, R, Jardini, T, Gould, E, Bennett, RE, Hessl, DR, Cohen, S, Cook, K, Tassone, F, Hagerman, PJ & Hagerman, RJ 2007, 'Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome', Movement Disorders, vol. 22, no. 5, pp. 645-650. https://doi.org/10.1002/mds.21359
Grigsby J, Brega AG, Leehey MA, Goodrich GK, Jacquemont S, Loesch DZ et al. Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Movement Disorders. 2007 Apr 15;22(5):645-650. https://doi.org/10.1002/mds.21359
Grigsby, Jim ; Brega, Angela G. ; Leehey, Maureen A. ; Goodrich, Glenn K. ; Jacquemont, Sébastien ; Loesch, Danuta Z. ; Cogswell, Jennifer B. ; Epstein, Jennifer ; Wilson, Rebecca ; Jardini, Tristan ; Gould, Emma ; Bennett, Rachael E. ; Hessl, David R ; Cohen, Susannah ; Cook, Kylee ; Tassone, Flora ; Hagerman, Paul J ; Hagerman, Randi J. / Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. In: Movement Disorders. 2007 ; Vol. 22, No. 5. pp. 645-650.
@article{3edf89f2a5784b01bb270f053ef23185,
title = "Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome",
abstract = "The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.",
keywords = "Cognition, Executive cognitive function, Fragile X, Premutation, Trinucleotide repeats",
author = "Jim Grigsby and Brega, {Angela G.} and Leehey, {Maureen A.} and Goodrich, {Glenn K.} and S{\'e}bastien Jacquemont and Loesch, {Danuta Z.} and Cogswell, {Jennifer B.} and Jennifer Epstein and Rebecca Wilson and Tristan Jardini and Emma Gould and Bennett, {Rachael E.} and Hessl, {David R} and Susannah Cohen and Kylee Cook and Flora Tassone and Hagerman, {Paul J} and Hagerman, {Randi J}",
year = "2007",
month = "4",
day = "15",
doi = "10.1002/mds.21359",
language = "English (US)",
volume = "22",
pages = "645--650",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "5",

}

TY - JOUR

T1 - Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

AU - Grigsby, Jim

AU - Brega, Angela G.

AU - Leehey, Maureen A.

AU - Goodrich, Glenn K.

AU - Jacquemont, Sébastien

AU - Loesch, Danuta Z.

AU - Cogswell, Jennifer B.

AU - Epstein, Jennifer

AU - Wilson, Rebecca

AU - Jardini, Tristan

AU - Gould, Emma

AU - Bennett, Rachael E.

AU - Hessl, David R

AU - Cohen, Susannah

AU - Cook, Kylee

AU - Tassone, Flora

AU - Hagerman, Paul J

AU - Hagerman, Randi J

PY - 2007/4/15

Y1 - 2007/4/15

N2 - The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.

AB - The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.

KW - Cognition

KW - Executive cognitive function

KW - Fragile X

KW - Premutation

KW - Trinucleotide repeats

UR - http://www.scopus.com/inward/record.url?scp=34249088586&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34249088586&partnerID=8YFLogxK

U2 - 10.1002/mds.21359

DO - 10.1002/mds.21359

M3 - Article

C2 - 17266074

AN - SCOPUS:34249088586

VL - 22

SP - 645

EP - 650

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 5

ER -