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Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers

Published on May 1, 2013in Neurobiology of Aging 4.40
· DOI :10.1016/j.neurobiolaging.2012.11.005
Fermin Moreno13
Estimated H-index: 13
(ISCIII: Instituto de Salud Carlos III),
Roser Sala-Llonch22
Estimated H-index: 22
(University of Barcelona)
+ 9 AuthorsBegoña Indakoetxea9
Estimated H-index: 9
(ISCIII: Instituto de Salud Carlos III)
Cite
Abstract
Abstract Studies in asymptomatic granulin gene ( GRN ) mutation carriers are essential to improve our understanding of the pattern and timing of early morphologic brain changes in frontotemporal lobar degeneration. The main objectives of this study were to assess the effect of age in cortical thickness changes (CTh) in preclinical GRN mutation carriers and to study the relationship of CTh with cognitive performance in GRN mutation carriers. We calculated CTh maps in 13 asymptomatic carriers of the c.709-1G>A GRN mutation and 13 age- and sex-matched healthy subjects. Asymptomatic GRN mutation carriers presented different patterns of age-related cortical thinning in the right superior temporal and middle temporal gyri and the banks of the superior temporal sulcus bilaterally when compared with controls. Cortical thickness was correlated with neuropsychological test scores: Trail Making Tests A and B, and the Boston Naming Test. Distinctive age-related cortical thinning in asymptomatic GRN mutation carriers in lateral temporal cortices suggests an early and disease-specific effect in these areas.
  • References (30)
  • Citations (8)
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References30
Newest
Published on Oct 1, 2012in Neurobiology of Aging 4.40
Barbara Borroni47
Estimated H-index: 47
(University of Brescia),
Antonella Alberici26
Estimated H-index: 26
(University of Brescia)
+ 11 AuthorsSilvana Archetti30
Estimated H-index: 30
Granulin (GRN) mutations have been identified as a major cause of frontotemporal lobar degeneration (FTLD) by haploinsufficiency mechanism, although their effects on brain tissue dysfunction and damage still remain to be clarified. In this study, we investigated the pattern of neuroimaging abnormalities in FTLD patients, carriers and noncarriers of GRN Thr272fs mutation, and in presymptomatic carriers. We assessed regional gray matter (GM) atrophy, and resting (RS)-functional magnetic resonance ...
62 Citations Source Cite
Published on Dec 1, 2011in Current Opinion in Neurology 4.65
Jonathan D. Rohrer48
Estimated H-index: 48
,
Jason D. Warren56
Estimated H-index: 56
Purposeof review Frontotemporal dementia (FTD) is a clinically, pathologically and genetically heterogeneous disorder. Mutations in a number of genes are associated with FTD, although until recently only two [progranulin (GRN) and microtubule-associated protein tau (MAPT)] were known to be major causes of the disease. This review describes recent progress in identifying clinical and neuroanatomical phenotypes associated with autosomal-dominant FTD.Recent findingsAround a third to a half of FTD p...
109 Citations Source Cite
Published on Sep 1, 2011in Brain 11.81
Jonathan D. Rohrer48
Estimated H-index: 48
(UCL Institute of Neurology),
Tammaryn Lashley37
Estimated H-index: 37
(UCL Institute of Neurology)
+ 18 AuthorsElizabeth K. Warrington80
Estimated H-index: 80
(UCL Institute of Neurology)
Relating clinical symptoms to neuroanatomical profiles of brain damage and ultimately to tissue pathology is a key challenge in the field of neurodegenerative disease and particularly relevant to the heterogeneous disorders that comprise the frontotemporal lobar degeneration spectrum. Here we present a retrospective analysis of clinical, neuropsychological and neuroimaging (volumetric and voxel-based morphometric) features in a pathologically ascertained cohort of 95 cases of frontotemporal loba...
181 Citations Source Cite
Published on Jul 1, 2011in Acta Neuropathologica 18.17
Ian R. Mackenzie78
Estimated H-index: 78
(UBC: University of British Columbia),
Manuela Neumann71
Estimated H-index: 71
(UZH: University of Zurich)
+ 7 AuthorsVirginia M.-Y. Lee170
Estimated H-index: 170
(UPenn: University of Pennsylvania)
In 2006, two papers were published, each describing pathological heterogeneity in cases of frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions (FTLD-U) [7, 11]. In both studies, large series of cases were evaluated and the investigators felt that they could recognize three distinct histological patterns, based on the morphology and anatomical distribution of ubiquitin immunoreactive neuronal inclusions. The findings of Sampathu et al. were further supported ...
456 Citations Source Cite
Published on Dec 14, 2010in Neurology 8.69
Jennifer Lynn Whitwell59
Estimated H-index: 59
,
Clifford R Jr. Jack133
Estimated H-index: 133
+ 8 AuthorsDennis W. Dickson156
Estimated H-index: 156
Objective: To determine whether TDP-43 type is associated with distinct patterns of brain atrophy on MRI in subjects with pathologically confirmed frontotemporal lobar degeneration (FTLD). Methods: In this case-control study, we identified all subjects with a pathologic diagnosis of FTLD with TDP-43 immunoreactive inclusions (FTLD-TDP) and at least one volumetric head MRI scan (n = 42). In each case we applied published criteria for subclassification of FTLD-TDP into FTLD-TDP types 1–3. Voxel-ba...
48 Citations Source Cite
Published on Nov 25, 2010in Journal of Alzheimer's Disease 3.70
Juan Fortea26
Estimated H-index: 26
,
Roser Sala-Llonch22
Estimated H-index: 22
+ 5 AuthorsRaquel Sánchez-Valle33
Estimated H-index: 33
75 Citations Source Cite
Published on Nov 1, 2010in NeuroImage 5.81
Jonathan D. Rohrer48
Estimated H-index: 48
(UCL Institute of Neurology),
Gerard R. Ridgway39
Estimated H-index: 39
(UCL: University College London)
+ 5 AuthorsJason D. Warren56
Estimated H-index: 56
(UCL Institute of Neurology)
Neural network breakdown is a key issue in neurodegenerative disease, but the mechanisms are poorly understood. Here we investigated patterns of brain atrophy produced by defined molecular lesions in the two common forms of genetically mediated frontotemporal lobar degeneration (FTLD). Nine patients with progranulin (GRN) mutations and eleven patients with microtubule-associated protein tau (MAPT) mutations had T1 MR brain imaging. Brain volumetry and grey and white matter voxel-based morphometr...
130 Citations Source Cite
Published on Oct 27, 2009in Neurology 8.69
Fermín Moreno4
Estimated H-index: 4
,
Begoña Indakoetxea9
Estimated H-index: 9
+ 8 AuthorsJ.F. Martí-Massó14
Estimated H-index: 14
Background: Mutations in the progranulin gene ( PGRN ) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions. Most previous studies aimed at characterizing the clinical and neuropsychological phenotype of PGRN mutation carriers included patients with different PGRN mutations, assuming that the common proposed pathogenetic mechanism of haploinsufficiency will lead to a comparable phenotype. Methods: We studied 21 patients with a single...
22 Citations Source Cite
Published on Sep 1, 2009in Cerebral Cortex 5.44
Anders M. Fjell55
Estimated H-index: 55
(University of Oslo),
Lars T. Westlye6
Estimated H-index: 6
(University of Oslo)
+ 9 AuthorsBruce Fischl92
Estimated H-index: 92
(MIT: Massachusetts Institute of Technology)
Cross-sectional magnetic resonance imaging (MRI) studies of cortical thickness and volume have shown age effects on large areas, but there are substantial discrepancies across studies regarding the localization and magnitude of effects. These discrepancies hinder understanding of effects of aging on brain morphometry, and limit the potential usefulness of MR in research on healthy and pathological age-related brain changes. The present study was undertaken to overcome this problem by assessing t...
377 Citations Source Cite
I. Sánchez-Cubillo4
Estimated H-index: 4
,
José Antonio Periañez7
Estimated H-index: 7
(Complutense University of Madrid)
+ 4 AuthorsFrancisco Barcelo-Arroyo32
Estimated H-index: 32
(UIB: University of the Balearic Islands)
The aim of this study was to clarify which cognitive mechanisms underlie Trail Making Test (TMT) direct and derived scores . A comprehensive review of the literature on the topic was carried out to clarify which cognitive factors had been related to TMT performance. Following the review, we explored the relative contribution from working memory, inhibition/ interference control, task-switching ability, and visuomotor speed to TMT performance. Forty-one healthy old subjects participated in the st...
480 Citations Source Cite
Cited By8
Newest
Published on Apr 1, 2019in NeuroImage 5.81
Enrico Premi17
Estimated H-index: 17
(University of Brescia),
Vince Daniel Calhoun87
Estimated H-index: 87
(UNM: University of New Mexico)
+ 130 AuthorsJohn VanSwieten68
Estimated H-index: 68
(EUR: Erasmus University Rotterdam)
Abstract Frontotemporal Dementia (FTD) is preceded by a long period of subtle brain changes, occurring in the absence of overt cognitive symptoms, that need to be still fully characterized. Dynamic network analysis based on resting-state magnetic resonance imaging (rs-fMRI) is a potentially powerful tool for the study of preclinical FTD. In the present study, we employed a "chronnectome" approach (recurring, time-varying patterns of connectivity) to evaluate measures of dynamic connectivity in 4...
Source Cite
Myriam Barandiaran7
Estimated H-index: 7
,
Fermin Moreno13
Estimated H-index: 13
+ 5 AuthorsAdolfo López de Munain33
Estimated H-index: 33
Source Cite
Published on Jan 1, 2018in NeuroImage: Clinical 3.94
Christopher Olm9
Estimated H-index: 9
(UPenn: University of Pennsylvania),
Corey T. McMillan31
Estimated H-index: 31
(UPenn: University of Pennsylvania)
+ 4 AuthorsMurray Grossman85
Estimated H-index: 85
(UPenn: University of Pennsylvania)
Abstract Introduction Mutations in the progranulin ( GRN ) gene are a major source of inherited frontotemporal degeneration (FTD) spectrum disorders associated with TDP-43 proteinopathy. We use structural MRI to identify regions of baseline differences and longitudinal changes in gray matter (GM) and white matter (WM) in presymptomatic GRN mutation carriers (pGRN+) compared to young controls (yCTL). Methods Cognitively intact first-degree relatives of symptomatic GRN+ FTD patients with identifie...
1 Citations Source Cite
Published on Aug 3, 2015in Journal of Alzheimer's Disease 3.70
Paola Caroppo9
Estimated H-index: 9
,
Marie-Odile Habert21
Estimated H-index: 21
(University of Paris)
+ 22 AuthorsDidier Hannequin56
Estimated H-index: 56
The preclinical stage of frontotemporal lobar degeneration (FTLD) is not well characterized. We conducted a brain metabolism (FDG-PET) and structural (cortical thickness) study to detect early changes in asymptomatic GRN mutation carriers (aGRN+) that were evaluated longitudinally over a 20-month period. At baseline, a left lateral temporal lobe hypometabolism was present in aGRN+ without any structural changes. Importantly, this is the first longitudinal study and, across time, the metabolism m...
12 Citations Source Cite
Published on Jan 1, 2015in Annals of Human Genetics 1.32
José Félix Martí Massó13
Estimated H-index: 13
,
Juan J. Zarranz23
Estimated H-index: 23
+ 1 AuthorsAdolfo López de Munain33
Estimated H-index: 33
uzcoa 6 BioCruces Institute, Baracaldo, Vizcaya 7 JAKIUNDE, Academia de las Ciencias, de las Artes y de las Letras Summary In the molecular era, the study of neurogenetic disorders in relict populations provides an opportunity to discover new genes by linkage studies and to establish clearer genotype-phenotype correlations in large cohorts of individuals carrying the same mutation. The Basque people are one of the most ancient populations living in Europe and represent an excellent resource for ...
3 Citations Source Cite
Published on Dec 1, 2014in Cephalalgia 4.44
Catherine D. Chong11
Estimated H-index: 11
(Mayo Clinic),
David William Dodick66
Estimated H-index: 66
(Mayo Clinic)
+ 1 AuthorsTodd J. Schwedt27
Estimated H-index: 27
(Mayo Clinic)
BackgroundPrior studies demonstrate reduced cortical thickness and volume in migraineurs. However, the effect of age on cortical thickness has not been assessed in migraineurs. In this study we investigated whether the process of aging on cortical thickness affects migraineurs differently compared to age-matched healthy controls, i.e. whether aging exacerbates cortical thinning in migraineurs.MethodsCortical thickness was estimated using a general linear model vertex-by-vertex approach for 32 he...
23 Citations Source Cite
Published on Sep 4, 2014in PLOS ONE 2.78
Enrico Premi17
Estimated H-index: 17
(University of Brescia),
Franco Cauda27
Estimated H-index: 27
(UNITO: University of Turin)
+ 4 AuthorsBarbara Borroni47
Estimated H-index: 47
(University of Brescia)
Background Monogenic dementias represent a great opportunity to trace disease progression from preclinical to symptomatic stages. Frontotemporal Dementia related to Granulin (GRN) mutations presents a specific framework of brain damage, involving fronto-temporal regions and long inter-hemispheric white matter bundles. Multimodal resting-state functional MRI (rs-fMRI) is a promising tool to carefully describe disease signature from the earliest disease phase. Objective To define local connectivit...
33 Citations Source Cite
Published on Feb 1, 2014in JAMA Neurology 12.32
Enrico Premi17
Estimated H-index: 17
(University of Brescia),
Anna Maria Formenti11
Estimated H-index: 11
(University of Brescia)
+ 4 AuthorsBarbara Borroni47
Estimated H-index: 47
(University of Brescia)
Importance Granulin ( GRN ) mutations represent one of the most frequent genetic causes of inherited frontotemporal dementia. The study of asymptomatic carriers of GRN Thr272fs mutation ( aGRN+ ) provides a unique opportunity to study the natural history of the disease and the role of modulating factors on disease onset. It has been demonstrated that the TMEM106B polymorphism is associated with GRN -related frontotemporal dementia and affects age at onset in GRN mutation carriers. Objective To a...
24 Citations Source Cite