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View article: MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia
MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia Open
Predicting symptom onset in genetic frontotemporal dementia (FTD) is crucial for advancing targeted interventions and clinical trial design. Brain changes begin years before clinical symptoms emerge, making neuroimaging a strong candidate …
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
View article: White matter hyperintensities precede other biomarkers in <i>GRN</i> frontotemporal dementia
White matter hyperintensities precede other biomarkers in <i>GRN</i> frontotemporal dementia Open
INTRODUCTION Increased white matter hyperintensities (WMHs) have been reported in genetic frontotemporal dementia (FTD) in small studies, but the sequence of WMH abnormalities relative to other biomarkers is unclear. METHODS Using a large …
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: A rostral prefrontal mediolateral gradient predicts creativity in frontotemporal dementia
A rostral prefrontal mediolateral gradient predicts creativity in frontotemporal dementia Open
Creative thinking is a fundamental aspect of human cognition, enabling the production of novel and useful ideas. It is hypothesized to emerge from the binding and reconfiguration of existing knowledge, through the generation of remote sema…
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 s…
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: Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan
Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan Open
The recent development of brain charts for the human lifespan offers an ideal modelling framework for pathologies such as genetic frontotemporal lobar degeneration (FTLD) which likely involve both neurodevelopmental and neurodegenerative p…
View article: Disease-modifying effects of <i>TMEM106B</i> in genetic frontotemporal dementia: a longitudinal GENFI study
Disease-modifying effects of <i>TMEM106B</i> in genetic frontotemporal dementia: a longitudinal GENFI study Open
Common variants within TMEM106B are associated with risk for frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP). The G allele of the top single nucleotide polymorphism, rs1990622, confers protection against FTLD-TDP, includ…
View article: Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia
Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia Open
INTRODUCTION Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of spora…
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: Montreal Cognitive Assessment vs the Mini-Mental State Examination as a Screening Tool for Patients With Genetic Frontotemporal Dementia
Montreal Cognitive Assessment vs the Mini-Mental State Examination as a Screening Tool for Patients With Genetic Frontotemporal Dementia Open
Its higher sensitivity and better discriminative power make MoCA a more valuable tool for cognitive screening in upcoming clinical trials targeting preclinical FTD. Future studies should aim for larger sample sizes from additional study ce…
View article: Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes Open
We used an untargeted mass spectrometric approach, tandem mass tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total of 238 cerebrospinal fluid (CSF) samples from the Genetic FTD I…
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: Disruption of macroscale functional network organisation in patients with frontotemporal dementia
Disruption of macroscale functional network organisation in patients with frontotemporal dementia Open
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, sever…
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: 20071. LA ASIMETRÍA CEREBRAL EN LA DEMENCIA FRONTOTEMPORAL POR MUTACIÓN EN GRN DISTINGUE ENTRE DOS SÍNDROMES Y PERMITE LA PREDICCIÓN DEL INICIO DE LA ENFERMEDAD
20071. LA ASIMETRÍA CEREBRAL EN LA DEMENCIA FRONTOTEMPORAL POR MUTACIÓN EN GRN DISTINGUE ENTRE DOS SÍNDROMES Y PERMITE LA PREDICCIÓN DEL INICIO DE LA ENFERMEDAD Open
View article: Genetic Semantic Dementia? Twins’ Data and Review of Autosomal Dominant Cases
Genetic Semantic Dementia? Twins’ Data and Review of Autosomal Dominant Cases Open
Background Amongst different subtypes of frontotemporal dementia (FTD), semantic dementia (SD, also known as the semantic variant of primary progressive aphasia, svPPA), is the least likely to have a genetic basis. Methods Our study had tw…
View article: Frontoparietal network integrity supports cognitive function in pre‐symptomatic frontotemporal dementia: Multimodal analysis of brain function, structure, and perfusion
Frontoparietal network integrity supports cognitive function 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 the pre‐symptomatic stage could info…
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: Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia
Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia Open
We identified multiple clusters of behavioral and neuropsychiatric symptoms in participants with genetic FTD that relate to distinct cerebral atrophy patterns. Their severity depends on time, affected gene, sex, and education. These clinic…
View article: Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia − A GENFI study
Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia − A GENFI study Open
We showed that inflammatory proteins are upregulated in MAPT and GRN SMC, with some specific factors altered in GRN only, whereas no changes were seen in C9ORF72 carriers. Notably, only IL-1α levels were decreased in both SMC and PMC, inde…
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: Executive function deficits in genetic frontotemporal dementia: results from the GENFI study
Executive function deficits in genetic frontotemporal dementia: results from the GENFI study Open
Background Executive dysfunction is a core feature of frontotemporal dementia (FTD). Whilst there has been extensive research into such impairments in sporadic FTD, there has been little research in the familial forms. Methods 752 individu…
View article: Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results Open
INTRODUCTION Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomar…
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…