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Published on Sep 19, 2017in Neurology 8.69
Janne M. Papma10
Estimated H-index: 10
Lize C. Jiskoot11
Estimated H-index: 11
+ 8 AuthorsSerge A.R.B. Rombouts64
Estimated H-index: 64
Objective: To investigate cognitive function, gray matter volume, and white matter integrity in the presymptomatic stage of chromosome 9 open reading frame 72 repeat expansion ( C9orf72RE ). Methods: Presymptomatic C9orf72RE carriers (n = 18) and first-degree family members without a pathogenic expansion (healthy controls [HC], n = 15) underwent a standardized protocol of neuropsychological tests, T1-weighted MRI, and diffusion tensor imaging within our cohort study of autosomal dominant frontot...
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...
Published on Mar 1, 2015in Lancet Neurology 28.75
Jonathan D. Rohrer48
Estimated H-index: 48
(UCL: University College London),
Jennifer M. Nicholas18
Estimated H-index: 18
(UCL: University College London)
+ 55 AuthorsShona Clegg10
Estimated H-index: 10
(UCL: University College London)
Summary Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal dominant genetic mutations usually in one of three genes: progranulin ( GRN ), microtubule-associated protein tau ( MAPT ), or chromosome 9 open reading frame 72 ( C9orf72 ). Findings from studies of other genetic dementias have shown neuroimaging and cognitive changes before symptoms onset, and we aimed to identify whether such changes cou...
Published on Oct 1, 2014in Alzheimers & Dementia 14.42
Michela Pievani30
Estimated H-index: 30
Donata Paternicò9
Estimated H-index: 9
+ 6 AuthorsGiovanni B. Frisoni81
Estimated H-index: 81
(University of Geneva)
Abstract Background To investigate the patterns of brain atrophy, white matter (WM) tract changes, and functional connectivity (FC) abnormalities in asymptomatic granulin ( GRN ) mutation carriers. Methods Ten cognitively normal subjects (five mutation carriers, GRN +; years to estimated disease onset: 12 ± 7; five mutation noncarriers, GRN −) underwent a clinical and imaging (structural, diffusion tensor, and resting-state functional magnetic resonance imaging) assessment. Brain atrophy was mea...
Published on Aug 1, 2014in Journal of The International Neuropsychological Society 3.10
Bradley J. Hallam5
Estimated H-index: 5
(UBC: University of British Columbia),
Claudia Jacova21
Estimated H-index: 21
(UBC: University of British Columbia)
+ 10 AuthorsTiffany W. Chow30
Estimated H-index: 30
(U of T: University of Toronto)
Published on Mar 1, 2014in Alzheimer Disease & Associated Disorders 2.38
Maxime Bertoux15
Estimated H-index: 15
Leonardo Cruz de Souza21
Estimated H-index: 21
+ 3 AuthorsMichael Hornberger120
Estimated H-index: 120
Background: Emotion deficits are a recognised biomarker for behavioural variant frontotemporal dementia (bvFTD), but recent studies have reported emotion deficits also in Alzheimer’s disease (AD). Methods: A hundred and twenty-three participants (33 AD, 60 bvFTD, 30 controls) were administered a facial emotion recognition test, to investigate the clinical factors influencing the diagnostic distinction on this measure. Binomial regression analysis revealed that facial emotion recognition in AD wa...
Published on Feb 1, 2014in Human Brain Mapping 4.55
Michael Hornberger120
Estimated H-index: 120
(UNSW: University of New South Wales),
Belinda Yew6
Estimated H-index: 6
(NeuRA: Neuroscience Research Australia)
+ 4 AuthorsJohn R. Hodges125
Estimated H-index: 125
(UNSW: University of New South Wales)
Loss in insight is a major feature of frontotemporal dementia (FTD) but has been investigated relatively little. More importantly, the neural basis of insight loss is still poorly understood. The current study investigated insight deficit profiles across a large cohort of neurodegenerative patients (n = 81), including FTD and Alzheimer's disease (AD) patients. We employed a novel insight questionnaire, which tapped into changes across different domains: social interaction, emotion, diagnosis/tre...
Published on May 1, 2013in Neurobiology of Aging 4.40
Fermin Moreno13
Estimated H-index: 13
(ISCIII: Instituto de Salud Carlos III),
Roser Sala-Llonch22
Estimated H-index: 22
(University of Barcelona)
+ 9 AuthorsJosé Félix Martí Massó13
Estimated H-index: 13
(ISCIII: Instituto de Salud Carlos III)
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 t...
Published on Feb 26, 2013in Neurology 8.69
Elise G.P. Dopper14
Estimated H-index: 14
Serge A.R.B. Rombouts64
Estimated H-index: 64
+ 10 AuthorsIlya M. Veer22
Estimated H-index: 22
Objective: We aimed to investigate whether cognitive deficits and structural and functional connectivity changes can be detected before symptom onset in a large cohort of carriers of microtubule-associated protein tau and progranulin mutations. Methods: In this case-control study, 75 healthy individuals (aged 20–70 years) with 50% risk for frontotemporal dementia (FTD) underwent DNA screening, neuropsychological assessment, and structural and functional MRI. We used voxel-based morphometry and t...
Published on Feb 1, 2013in Journal of Neurology, Neurosurgery, and Psychiatry 8.27
Jette Stokholm12
Estimated H-index: 12
(Copenhagen University Hospital),
Thomas William Teasdale10
Estimated H-index: 10
(UCPH: University of Copenhagen)
+ 5 AuthorsAnders Gade30
Estimated H-index: 30
(UCPH: University of Copenhagen)
Objective and methods A longitudinal study spanning over 8 years and including 17 asymptomatic individuals with CHMP2B mutations was conducted to assess the earliest neuropsychological changes in autosomal dominant neurodegenerative disease frontotemporal dementia (FTD) linked to chromosome 3 (FTD-3). Subjects were assessed with neuropsychological tests in 2002, 2005 and 2010. Results Cross-sectional analyses showed that the mutation carriers scored lower on tests of psychomotor speed, working m...
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