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Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers

Published on Jan 1, 2019in Journal of The International Neuropsychological Society3.098
· DOI :10.1017/s1355617718000735
Myriam Barandiaran8
Estimated H-index: 8
,
Fermin Moreno13
Estimated H-index: 13
+ 5 AuthorsAdolfo López de Munain33
Estimated H-index: 33
Abstract
  • References (33)
  • Citations (0)
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#1Janne M. Papma (Erasmus University Medical Center)H-Index: 5
#2Lize C. Jiskoot (Erasmus University Medical Center)H-Index: 4
Last. John VanSwietenH-Index: 71
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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...
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#1Lize C. JiskootH-Index: 4
#2Elise G.P. DopperH-Index: 16
Last. Janne M. PapmaH-Index: 9
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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...
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#1Paola CaroppoH-Index: 9
#2Marie-Odile HabertH-Index: 22
Last. Isabelle Le BerH-Index: 32
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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...
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#1Jonathan D. Rohrer (UCL: University College London)H-Index: 50
#2Jennifer M. Nicholas (UCL: University College London)H-Index: 20
Last. Martin N. Rossor (UCL: University College London)H-Index: 113
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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...
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#1Michela PievaniH-Index: 28
#2Donata PaternicòH-Index: 9
Last. Giovanni B. Frisoni (University of Geneva)H-Index: 84
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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...
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#1Bradley J. Hallam (UBC: University of British Columbia)H-Index: 5
#2Claudia Jacova (UBC: University of British Columbia)H-Index: 22
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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...
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#1Michael Hornberger (UNSW: University of New South Wales)H-Index: 121
#2Belinda Yew (NeuRA: Neuroscience Research Australia)H-Index: 6
Last. John R. Hodges (UNSW: University of New South Wales)H-Index: 128
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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...
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#1Fermin Moreno (ISCIII: Carlos III Health Institute)H-Index: 13
#2Roser Sala-Llonch (University of Barcelona)H-Index: 24
Last. Begoña Indakoetxea (ISCIII: Carlos III Health Institute)H-Index: 9
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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...
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#1E.G.P. DopperH-Index: 2
Last. John VanSwietenH-Index: 71
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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...
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Behavioural variant frontotemporal dementia (bvFTD) is the second leading cognitive disorder caused by neurodegeneration in patients under 65 years of age. Characterized by frontal, insular and/or temporal brain atrophy, patients present with heterogeneous constellations of behavioral and psychological symptoms among which progressive changes in social conduct, lack of empathy, apathy, disinhibited behaviours and cognitive impairments are frequently observed. Since the histopathology of the dise...
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