Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments

Naomi J. Goodrich-Hunsaker, Ling M. Wong, Yingratana McLennan, Siddharth Srivastava, Flora Tassone, Danielle J Harvey, Susan M. Rivera, Tony J Simon

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task. Our results begin to define the neurocognitive endophenotype associated with the premutation in adults, who are at risk for developing a neurodegenerative disorder associated with the fragile X premutation. Results from the present study may potentially be applied toward the design of early interventions wherein we might be able to target premutation carriers most at risk for degeneration for preventive treatment.

Original languageEnglish (US)
Pages (from-to)255-260
Number of pages6
JournalBrain and Cognition
Volume75
Issue number3
DOIs
StatePublished - Apr 2011

Fingerprint

Young Adult
Endophenotypes
Mutation
Neurodegenerative Diseases
Cognition
Population
Genes
Cognitive Dysfunction
Carrier
Cognitive Impairment
Young Adults
Therapeutics
Cognitive Development
Cognitive Function
Degeneration
Life Span
Early Intervention
Gene

Keywords

  • Adult
  • Fragile X premutation carrier
  • Magnitude
  • Numerical
  • Parietal lobe
  • Spatial
  • Women

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Experimental and Cognitive Psychology
  • Neuropsychology and Physiological Psychology

Cite this

Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. / Goodrich-Hunsaker, Naomi J.; Wong, Ling M.; McLennan, Yingratana; Srivastava, Siddharth; Tassone, Flora; Harvey, Danielle J; Rivera, Susan M.; Simon, Tony J.

In: Brain and Cognition, Vol. 75, No. 3, 04.2011, p. 255-260.

Research output: Contribution to journalArticle

Goodrich-Hunsaker, Naomi J. ; Wong, Ling M. ; McLennan, Yingratana ; Srivastava, Siddharth ; Tassone, Flora ; Harvey, Danielle J ; Rivera, Susan M. ; Simon, Tony J. / Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. In: Brain and Cognition. 2011 ; Vol. 75, No. 3. pp. 255-260.
@article{6dee7051f9ab4b74bd66fbedc4c45e23,
title = "Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments",
abstract = "The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task. Our results begin to define the neurocognitive endophenotype associated with the premutation in adults, who are at risk for developing a neurodegenerative disorder associated with the fragile X premutation. Results from the present study may potentially be applied toward the design of early interventions wherein we might be able to target premutation carriers most at risk for degeneration for preventive treatment.",
keywords = "Adult, Fragile X premutation carrier, Magnitude, Numerical, Parietal lobe, Spatial, Women",
author = "Goodrich-Hunsaker, {Naomi J.} and Wong, {Ling M.} and Yingratana McLennan and Siddharth Srivastava and Flora Tassone and Harvey, {Danielle J} and Rivera, {Susan M.} and Simon, {Tony J}",
year = "2011",
month = "4",
doi = "10.1016/j.bandc.2011.01.001",
language = "English (US)",
volume = "75",
pages = "255--260",
journal = "Brain and Cognition",
issn = "0278-2626",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments

AU - Goodrich-Hunsaker, Naomi J.

AU - Wong, Ling M.

AU - McLennan, Yingratana

AU - Srivastava, Siddharth

AU - Tassone, Flora

AU - Harvey, Danielle J

AU - Rivera, Susan M.

AU - Simon, Tony J

PY - 2011/4

Y1 - 2011/4

N2 - The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task. Our results begin to define the neurocognitive endophenotype associated with the premutation in adults, who are at risk for developing a neurodegenerative disorder associated with the fragile X premutation. Results from the present study may potentially be applied toward the design of early interventions wherein we might be able to target premutation carriers most at risk for degeneration for preventive treatment.

AB - The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task. Our results begin to define the neurocognitive endophenotype associated with the premutation in adults, who are at risk for developing a neurodegenerative disorder associated with the fragile X premutation. Results from the present study may potentially be applied toward the design of early interventions wherein we might be able to target premutation carriers most at risk for degeneration for preventive treatment.

KW - Adult

KW - Fragile X premutation carrier

KW - Magnitude

KW - Numerical

KW - Parietal lobe

KW - Spatial

KW - Women

UR - http://www.scopus.com/inward/record.url?scp=79952041679&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79952041679&partnerID=8YFLogxK

U2 - 10.1016/j.bandc.2011.01.001

DO - 10.1016/j.bandc.2011.01.001

M3 - Article

C2 - 21295394

AN - SCOPUS:79952041679

VL - 75

SP - 255

EP - 260

JO - Brain and Cognition

JF - Brain and Cognition

SN - 0278-2626

IS - 3

ER -