Altered structural brain connectome in young adult fragile X premutation carriers

Alex Leow, Danielle J Harvey, Naomi J. Goodrich-Hunsaker, Johnson Gadelkarim, Anand Kumar, Liang Zhan, Susan M. Rivera, Tony J Simon

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Fragile X premutation carriers (fXPC) are characterized by 55-200 CGG trinucleotide repeats in the 5′ untranslated region on the Xq27.3 site of the X chromosome. Clinically, they are associated with the fragile X-Associated Tremor/Ataxia Syndrome, a late-onset neurodegenerative disorder with diffuse white matter neuropathology. Here, we conducted first-ever graph theoretical network analyses in fXPCs using 30-direction diffusion-weighted magnetic resonance images acquired from 42 healthy controls aged 18-44 years (HC; 22 male and 20 female) and 46 fXPCs (16 male and 30 female). Globally, we found no differences between the fXPCs and HCs within each gender for all global graph theoretical measures. In male fXPCs, global efficiency was significantly negatively associated with the number of CGG repeats. For nodal measures, significant group differences were found between male fXPCs and male HCs in the right fusiform and the right ventral diencephalon (for nodal efficiency), and in the left hippocampus [for nodal clustering coefficient (CC)]. In female fXPCs, CC in the left superior parietal cortex correlated with counting performance in an enumeration task.

Original languageEnglish (US)
Pages (from-to)4518-4530
Number of pages13
JournalHuman Brain Mapping
Volume35
Issue number9
DOIs
StatePublished - 2014

Fingerprint

Connectome
Young Adult
Brain
Cluster Analysis
Trinucleotide Repeats
Diencephalon
Parietal Lobe
5' Untranslated Regions
X Chromosome
Neurodegenerative Diseases
Hippocampus
Magnetic Resonance Spectroscopy

Keywords

  • CGG
  • DTI
  • Fragile X
  • FXTAS
  • Graph theory
  • Structural connectome

ASJC Scopus subject areas

  • Clinical Neurology
  • Anatomy
  • Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Medicine(all)

Cite this

Altered structural brain connectome in young adult fragile X premutation carriers. / Leow, Alex; Harvey, Danielle J; Goodrich-Hunsaker, Naomi J.; Gadelkarim, Johnson; Kumar, Anand; Zhan, Liang; Rivera, Susan M.; Simon, Tony J.

In: Human Brain Mapping, Vol. 35, No. 9, 2014, p. 4518-4530.

Research output: Contribution to journalArticle

Leow, A, Harvey, DJ, Goodrich-Hunsaker, NJ, Gadelkarim, J, Kumar, A, Zhan, L, Rivera, SM & Simon, TJ 2014, 'Altered structural brain connectome in young adult fragile X premutation carriers', Human Brain Mapping, vol. 35, no. 9, pp. 4518-4530. https://doi.org/10.1002/hbm.22491
Leow, Alex ; Harvey, Danielle J ; Goodrich-Hunsaker, Naomi J. ; Gadelkarim, Johnson ; Kumar, Anand ; Zhan, Liang ; Rivera, Susan M. ; Simon, Tony J. / Altered structural brain connectome in young adult fragile X premutation carriers. In: Human Brain Mapping. 2014 ; Vol. 35, No. 9. pp. 4518-4530.
@article{2296d5ed9377447591e622f22e751e44,
title = "Altered structural brain connectome in young adult fragile X premutation carriers",
abstract = "Fragile X premutation carriers (fXPC) are characterized by 55-200 CGG trinucleotide repeats in the 5′ untranslated region on the Xq27.3 site of the X chromosome. Clinically, they are associated with the fragile X-Associated Tremor/Ataxia Syndrome, a late-onset neurodegenerative disorder with diffuse white matter neuropathology. Here, we conducted first-ever graph theoretical network analyses in fXPCs using 30-direction diffusion-weighted magnetic resonance images acquired from 42 healthy controls aged 18-44 years (HC; 22 male and 20 female) and 46 fXPCs (16 male and 30 female). Globally, we found no differences between the fXPCs and HCs within each gender for all global graph theoretical measures. In male fXPCs, global efficiency was significantly negatively associated with the number of CGG repeats. For nodal measures, significant group differences were found between male fXPCs and male HCs in the right fusiform and the right ventral diencephalon (for nodal efficiency), and in the left hippocampus [for nodal clustering coefficient (CC)]. In female fXPCs, CC in the left superior parietal cortex correlated with counting performance in an enumeration task.",
keywords = "CGG, DTI, Fragile X, FXTAS, Graph theory, Structural connectome",
author = "Alex Leow and Harvey, {Danielle J} and Goodrich-Hunsaker, {Naomi J.} and Johnson Gadelkarim and Anand Kumar and Liang Zhan and Rivera, {Susan M.} and Simon, {Tony J}",
year = "2014",
doi = "10.1002/hbm.22491",
language = "English (US)",
volume = "35",
pages = "4518--4530",
journal = "Human Brain Mapping",
issn = "1065-9471",
publisher = "Wiley-Liss Inc.",
number = "9",

}

TY - JOUR

T1 - Altered structural brain connectome in young adult fragile X premutation carriers

AU - Leow, Alex

AU - Harvey, Danielle J

AU - Goodrich-Hunsaker, Naomi J.

AU - Gadelkarim, Johnson

AU - Kumar, Anand

AU - Zhan, Liang

AU - Rivera, Susan M.

AU - Simon, Tony J

PY - 2014

Y1 - 2014

N2 - Fragile X premutation carriers (fXPC) are characterized by 55-200 CGG trinucleotide repeats in the 5′ untranslated region on the Xq27.3 site of the X chromosome. Clinically, they are associated with the fragile X-Associated Tremor/Ataxia Syndrome, a late-onset neurodegenerative disorder with diffuse white matter neuropathology. Here, we conducted first-ever graph theoretical network analyses in fXPCs using 30-direction diffusion-weighted magnetic resonance images acquired from 42 healthy controls aged 18-44 years (HC; 22 male and 20 female) and 46 fXPCs (16 male and 30 female). Globally, we found no differences between the fXPCs and HCs within each gender for all global graph theoretical measures. In male fXPCs, global efficiency was significantly negatively associated with the number of CGG repeats. For nodal measures, significant group differences were found between male fXPCs and male HCs in the right fusiform and the right ventral diencephalon (for nodal efficiency), and in the left hippocampus [for nodal clustering coefficient (CC)]. In female fXPCs, CC in the left superior parietal cortex correlated with counting performance in an enumeration task.

AB - Fragile X premutation carriers (fXPC) are characterized by 55-200 CGG trinucleotide repeats in the 5′ untranslated region on the Xq27.3 site of the X chromosome. Clinically, they are associated with the fragile X-Associated Tremor/Ataxia Syndrome, a late-onset neurodegenerative disorder with diffuse white matter neuropathology. Here, we conducted first-ever graph theoretical network analyses in fXPCs using 30-direction diffusion-weighted magnetic resonance images acquired from 42 healthy controls aged 18-44 years (HC; 22 male and 20 female) and 46 fXPCs (16 male and 30 female). Globally, we found no differences between the fXPCs and HCs within each gender for all global graph theoretical measures. In male fXPCs, global efficiency was significantly negatively associated with the number of CGG repeats. For nodal measures, significant group differences were found between male fXPCs and male HCs in the right fusiform and the right ventral diencephalon (for nodal efficiency), and in the left hippocampus [for nodal clustering coefficient (CC)]. In female fXPCs, CC in the left superior parietal cortex correlated with counting performance in an enumeration task.

KW - CGG

KW - DTI

KW - Fragile X

KW - FXTAS

KW - Graph theory

KW - Structural connectome

UR - http://www.scopus.com/inward/record.url?scp=84904509170&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84904509170&partnerID=8YFLogxK

U2 - 10.1002/hbm.22491

DO - 10.1002/hbm.22491

M3 - Article

C2 - 24578183

AN - SCOPUS:84904509170

VL - 35

SP - 4518

EP - 4530

JO - Human Brain Mapping

JF - Human Brain Mapping

SN - 1065-9471

IS - 9

ER -