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View article: Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration Open
Fluid biomarkers to diagnose frontotemporal lobar degeneration (FTLD) are currently lacking. In this study, we aimed to identify proteomic changes in cerebrospinal fluid (CSF) associated with FTLD pathogenesis, focusing on signatures uniqu…
View article: Quantifying multimodal longitudinal brain changes in presymptomatic <i>C9orf72</i> disease
Quantifying multimodal longitudinal brain changes in presymptomatic <i>C9orf72</i> disease Open
INTRODUCTION The presymptomatic phase of frontotemporal dementia and amyotrophic lateral sclerosis associated with C 9orf72 repeat expansion features widespread structural brain changes. We aimed at fulfilling the unmet need of quantitativ…
View article: Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study
Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study Open
The study of genetic frontotemporal dementia (FTD) allows investigating its earliest presymptomatic stages. Using cross-sectional T1-weighted and diffusion-weighted MRI, we test the hypothesis that cortical microstructural alterations, qua…
View article: Cross‐country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia
Cross‐country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia Open
INTRODUCTION We investigated international differences in facial emotion recognition (FER) across stages of frontotemporal dementia (FTD). Previous studies may have missed early decline by combining data and masking variations in FER acros…
View article: Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia
Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia Open
CVR impairment in genetic FTD has a predilection for the middle frontal and posterior cortex, and its preservation may yield a cognitive benefit for at-risk individuals. Although findings do not provide causality and warrant replication, t…
View article: Executive Function Deficits in Genetic Frontotemporal Dementia
Executive Function Deficits in Genetic Frontotemporal Dementia Open
Some individuals with C9orf72 mutations show difficulties with executive function from very early on in the disease and this continues to deteriorate with disease severity. By contrast, similar difficulties occur only in the later stages o…
View article: Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders
Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders Open
Background Genetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to…
View article: Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia Open
INTRODUCTION Microtubule‐associated protein tau ( MAPT ) mutations cause frontotemporal dementia (FTD), characterised by behavioural, language, and motor impairments due to brain connectivity disruptions. We investigated structural and fun…
View article: Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences
Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences Open
Background and Objectives Converging evidence hints at neurodevelopmental effects in people at risk of genetic frontotemporal dementia (FTD), including associations between FTD-causing mutations and neurodevelopmental disorders, and differ…
View article: Cellular signatures of functional resilience in presymptomatic frontotemporal dementia
Cellular signatures of functional resilience in presymptomatic frontotemporal dementia Open
Frontotemporal dementia (FTD) shows autosomal dominant transmission in up to a third of families, enabling the study of presymptomatic and prodromal phases. Despite self-reported well-being and normal daily cognitive functioning, brain str…
View article: Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study Open
Thalamic subregions are commonly, but variably, affected by different forms of frontotemporal dementia. We aimed to better characterize thalamic subregional involvement in genetic frontotemporal dementia with a recently published thalamus …
View article: Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia Open
FTD-GRN affects the brain hemispheres asymmetrically and causes 2 anatomical asymmetry patterns depending on the side of the disease onset. We demonstrated that these 2 anatomical asymmetry patterns present different symptoms, severity at …
View article: Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia Open
These findings suggest that sleep dysfunction in patients with genetic FTD may be attributable to atrophy in sleep-relevant hypothalamic subunits, with the most severe and consistent deficits observed in MAPT carriers. While biologically p…
View article: Identifying latent disease factors differently expressed in patient subgroups using group factor analysis
Identifying latent disease factors differently expressed in patient subgroups using group factor analysis Open
In this study, we propose a novel approach to uncover subgroup-specific and subgroup-common latent factors addressing the challenges posed by the heterogeneity of neurological and mental disorders, which hinder disease understanding, treat…
View article: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Open
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP…
View article: Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study
Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study Open
Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in g…
View article: Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia Open
INTRODUCTION We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR…
View article: Cerebrovascular reactivity impairment in genetic frontotemporal dementia
Cerebrovascular reactivity impairment in genetic frontotemporal dementia Open
INTRODUCTION Cerebrovascular reactivity (CVR) is an indicator of cerebrovascular health and its signature in hereditary frontotemporal dementia (FTD) remains unknown. We investigated CVR in genetic FTD and its relationship to cognition. ME…
View article: Disruption of Macroscale Functional Network Organisation in Patients with Frontotemporal Dementia
Disruption of Macroscale Functional Network Organisation in Patients with Frontotemporal Dementia Open
Neurodegenerative dementias have a profound impact on higher-order cognitive and behavioural functions. Investigating macroscale functional networks through cortical gradients provides valuable insights into the neurodegenerative dementia …
View article: Frontoparietal network integrity supports cognitive function despite atrophy and hypoperfusion in pre-symptomatic frontotemporal dementia: multimodal analysis of brain function, structure and perfusion
Frontoparietal network integrity supports cognitive function despite atrophy and hypoperfusion in pre-symptomatic frontotemporal dementia: multimodal analysis of brain function, structure and perfusion Open
INTRODUCTION Genetic mutation carriers of frontotemporal dementia can remain cognitively well despite neurodegeneration. A better understanding of brain structural, perfusion and functional patterns in pre-symptomatic stage could inform ac…
View article: NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study Open
Background Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability…
View article: Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study
Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study Open
The glymphatic system is an emerging target in neurodegenerative disorders. Here, we investigated the activity of the glymphatic system in genetic frontotemporal dementia with a diffusion-based technique called diffusion tensor image analy…
View article: Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy Open
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP…
View article: Examining longitudinal changes of disease severity scores in familial forms of frontotemporal dementia within the GENFI cohort
Examining longitudinal changes of disease severity scores in familial forms of frontotemporal dementia within the GENFI cohort Open
Background The CDR®+NACC FTLD Sum of Boxes (SB) score is a well‐established measure of disease severity in frontotemporal dementia (FTD), however, few studies have assessed longitudinal changes in score within familial forms of FTD. Method…