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Published on Sep 19, 2017in Neurology 8.05
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...
14 Citations Source Cite
Published on Jul 26, 2016in Neurology 8.05
Lize C. Jiskoot11
Estimated H-index: 11
,
Elise G.P. Dopper14
Estimated H-index: 14
+ 4 AuthorsJanne M. Papma10
Estimated H-index: 10
Objective: In this prospective cohort study, we performed a 2-year follow-up study with neuropsychological assessment in the presymptomatic phase of familial frontotemporal dementia (FTD) due to GRN and MAPT mutations to explore the prognostic value of neuropsychological assessment in the earliest FTD disease stages. Methods: Healthy, at-risk, first-degree relatives of patients with FTD who had a MAPT (n = 13) or GRN mutation (n = 30) and healthy controls (n = 39) underwent neuropsychological as...
12 Citations Source Cite
Published on Aug 3, 2015in Journal of Alzheimer's Disease 3.17
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 Mar 1, 2015in Lancet Neurology 27.14
Jonathan D. Rohrer48
Estimated H-index: 48
(University College London),
Jennifer M. Nicholas18
Estimated H-index: 18
(University College London)
+ 55 AuthorsShona Clegg10
Estimated H-index: 10
(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...
161 Citations Source Cite
Published on Oct 1, 2014in Alzheimers & Dementia 12.76
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...
26 Citations Source Cite
Bradley J. Hallam5
Estimated H-index: 5
(University of British Columbia),
Claudia Jacova21
Estimated H-index: 21
(University of British Columbia)
+ 10 AuthorsTiffany W. Chow30
Estimated H-index: 30
(University of Toronto)
6 Citations Source Cite
Published on Mar 1, 2014in Alzheimer Disease & Associated Disorders 1.94
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...
26 Citations Source Cite
Published on Feb 1, 2014in Human Brain Mapping 4.93
Michael Hornberger120
Estimated H-index: 120
(University of New South Wales),
Belinda Yew6
Estimated H-index: 6
(Neuroscience Research Australia)
+ 4 AuthorsJohn R. Hodges125
Estimated H-index: 125
(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...
34 Citations Source Cite
Published on May 1, 2013in Neurobiology of Aging 4.45
Fermin Moreno13
Estimated H-index: 13
(Instituto de Salud Carlos III),
Roser Sala-Llonch22
Estimated H-index: 22
(University of Barcelona)
+ 9 AuthorsJosé Félix Martí Massó13
Estimated H-index: 13
(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...
8 Citations Source Cite
Published on Feb 26, 2013in Neurology 8.05
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...
98 Citations Source Cite
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