Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study.


Journal

Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437

Informations de publication

Date de publication:
04 2020
Historique:
received: 27 06 2019
revised: 03 12 2019
accepted: 06 12 2019
pubmed: 11 1 2020
medline: 24 9 2020
entrez: 11 1 2020
Statut: ppublish

Résumé

Loss-of-function mutations in the progranulin gene (GRN) are one of the major causes of familial frontotemporal lobar degeneration. Our objective was to determine the rates and trajectories of lobar cortical atrophy from longitudinal structural magnetic resonance imaging in both asymptomatic and symptomatic GRN mutation carriers. Individuals in this study were from the ADRC and LEFFTDS studies at the Mayo Clinic. We identified 13 GRN mutation carriers (8 asymptomatic, 5 symptomatic) and noncarriers (n = 10) who had at least 2 serial T1-weighted structural magnetic resonance images and were followed annually with a median of 3 years (range 1.0-9.8 years). Longitudinal changes in lobar cortical volume were analyzed using the tensor-based morphometry with symmetric normalization (TBM-SyN) algorithm. Linear mixed-effect models were used to model cortical volume change over time among 3 groups. The annual rates of frontal (p < 0.05) and parietal (p < 0.01) lobe cortical atrophy were higher in asymptomatic GRN mutation carriers than noncarriers. The symptomatic GRN mutation carriers also had increased rates of atrophy in the frontal (p < 0.01) and parietal lobe (p < 0.01) cortices than noncarriers. In addition, greater rates of cortical atrophy were observed in the temporal lobe cortices of symptomatic GRN mutation carriers than noncarriers (p < 0.001). We found that a decline in frontal and parietal lobar cortical volume occurs in asymptomatic GRN mutation carriers and continues in the symptomatic GRN mutation carriers, whereas an increased rate of temporal lobe cortical atrophy is observed only in symptomatic GRN mutation carriers. This sequential pattern of cortical involvement in GRN mutation carriers has important implications for using imaging biomarkers of neurodegeneration as an outcome measure in potential treatment trials involving GRN mutation carriers.

Identifiants

pubmed: 31918955
pii: S0197-4580(19)30432-4
doi: 10.1016/j.neurobiolaging.2019.12.004
pmc: PMC7767622
mid: NIHMS1548376
pii:
doi:

Substances chimiques

GRN protein, human 0
Progranulins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

42-50

Subventions

Organisme : NIA NIH HHS
ID : K24 AG045333
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG021886
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG040042
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG045390
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS092089
Pays : United States
Organisme : NIA NIH HHS
ID : U19 AG063911
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG016976
Pays : United States

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

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Auteurs

Qin Chen (Q)

Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan, China; Department of Radiology, Mayo Clinic, Rochester, MN, USA.

Bradley F Boeve (BF)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Matthew Senjem (M)

Department of Radiology, Mayo Clinic, Rochester, MN, USA.

Nirubol Tosakulwong (N)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Timothy Lesnick (T)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Danielle Brushaber (D)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Christina Dheel (C)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Julie Fields (J)

Department of Psychology and Psychiatry, Mayo Clinic, Rochester, MN, USA.

Leah Forsberg (L)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Ralitza Gavrilova (R)

Department of Clinical Genomic and Neurology, Mayo Clinic, Rochester, MN, USA.

Debra Gearhart (D)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Jonathan Graff-Radford (J)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Neill Graff-Radford (N)

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Clifford R Jack (CR)

Department of Radiology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

David Jones (D)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

David Knopman (D)

Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.

Walter K Kremers (WK)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Maria Lapid (M)

Department of Psychology and Psychiatry, Mayo Clinic, Rochester, MN, USA.

Rosa Rademakers (R)

Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Eliana Marisa Ramos (EM)

Department of Psychiatry, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.

Jeremy Syrjanen (J)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Adam L Boxer (AL)

Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA.

Howie Rosen (H)

Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA.

Zbigniew K Wszolek (ZK)

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Kejal Kantarci (K)

Department of Radiology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA. Electronic address: kantarci.kejal@mayo.edu.

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