Anna Antonell
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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: 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: Decreased practice effects in cognitively unimpaired amyloid betapositive individuals: a multicenter, longitudinal, cohort study
Decreased practice effects in cognitively unimpaired amyloid betapositive individuals: a multicenter, longitudinal, cohort study Open
INTRODUCTION We aimed to determine whether cognitively unimpaired (CU) amyloid‐ beta‐positive (Aβ+) individuals display decreased practice effects on serial neuropsychological testing. METHODS We included 209 CU participants from three res…
View article: The Cortical Asymmetry Index for subtyping dementia patients
The Cortical Asymmetry Index for subtyping dementia patients Open
Objectives Frontotemporal dementia (FTD) usually shows more asymmetric atrophy patterns than Alzheimer’s disease (AD). We aim to quantify this asymmetry to differentiate FTD, AD, and FTD subtypes. Methods We studied T1-MRI scans, including…
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: Analyzing the expression of candidate genes in whole blood of autosomal dominant Alzheimer’s Disease
Analyzing the expression of candidate genes in whole blood of autosomal dominant Alzheimer’s Disease Open
Background Autosomal dominant Alzheimer’s Disease (ADAD) represents around 0.5% of all AD cases, and is caused by mutations in PSEN1 , PSEN2 and APP genes. Gene expression studies can be useful for unravelling the physiopathology of AD and…
View article: Decreased practice effects in preclinical Alzheimer’s disease: a multicenter, longitudinal, cohort study
Decreased practice effects in preclinical Alzheimer’s disease: a multicenter, longitudinal, cohort study Open
Background Practice effects are a well‐known cognitive phenomenon that is reduced in patients with Alzheimer’s disease (AD). We aimed to investigate whether cognitively unimpaired (CU) individuals within the Alzheimer’s continuum (i.e., po…
View article: The ADIS study: Early Diagnosis of Alzheimer's Disease by Immune Profiling of Cytotoxic Lymphocytes and Recording of Sleep Disturbances
The ADIS study: Early Diagnosis of Alzheimer's Disease by Immune Profiling of Cytotoxic Lymphocytes and Recording of Sleep Disturbances Open
Background Sleep‐wake alterations are common symptoms in Alzheimer’s Disease (AD) associated with faster cognitive decline. Noradrenaline dysfunction and neuroinflammation have been proposed as potential driving mechanisms. The ADIS projec…
View article: Plasma Biomarkers Predict Cognitive Decline in Alzheimer's Disease
Plasma Biomarkers Predict Cognitive Decline in Alzheimer's Disease Open
Background Alzheimer's disease (AD) features a complex interplay of factors influencing cognitive decline. While CSF and plasma biomarkers have widely demonstrated their diagnostic utility, whether they may add prognostic value remains unr…
View article: A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors Open
Background Pathogenic heterozygous mutations in the progranulin gene ( GRN ) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a nu…
View article: The Cortical Asymmetry Index (CAI) for subtyping dementia patients
The Cortical Asymmetry Index (CAI) for subtyping dementia patients Open
Background: Frontotemporal dementia (FTD) patients usually show more asymmetric atrophy patterns than Alzheimer’s Disease (AD) patients. Here, we define the individual Cortical Asymmetry Index (CAI) and explore its diagnostic utility. Meth…
View article: Human endogenous retroviruses are upregulated in Frontotemporal Dementia-MAPT mutation carriers
Human endogenous retroviruses are upregulated in Frontotemporal Dementia-MAPT mutation carriers Open
Previous studies have identified an upregulation of human endogenous retroviruses (HERVs) in several disorders, but little is known about their role in neurodegenerative dementias. In this study, we investigate a possible role of HERVs in …
View article: Are noradrenergic and orexinergic systems contributing to sleep‐wake patterns in early and late‐onset Alzheimer’s Disease?
Are noradrenergic and orexinergic systems contributing to sleep‐wake patterns in early and late‐onset Alzheimer’s Disease? Open
Background Neuropsychiatric symptoms, including sleep‐wake disturbances, are more common in Early‐onset Alzheimer’s disease (EOAD) than in Late‐onset AD (LOAD)( Falgàs, EurJNeurol2022 ). The pattern of tau‐related degeneration of wake and …
View article: Plasma biomarkers as prognostic markers in Alzheimer’s disease: Influence of age at onset
Plasma biomarkers as prognostic markers in Alzheimer’s disease: Influence of age at onset Open
Background Little is known about the influence of age at onset (AAO) on plasma biomarkers and their use as prognostic biomarkers in Alzheimer’s disease (AD). Method We selected patients with AD diagnosis with available neuropsychological t…
View article: Diagnosis in an early‐onset dementia clinic in the period 2016‐2021 and impact of COVID‐19 pandemic
Diagnosis in an early‐onset dementia clinic in the period 2016‐2021 and impact of COVID‐19 pandemic Open
Background The diagnosis of early‐onset neurodegenerative dementias (<65 years) can represent a challenge due to their lower frequency respect to late‐onset dementias and atypical forms of presentation. Cognitive impairment has emerged as …
View article: Plasma p‐tau181 for the differential diagnosis of cognitive impairment in a prospective, daily clinical practice cohort
Plasma p‐tau181 for the differential diagnosis of cognitive impairment in a prospective, daily clinical practice cohort Open
Background Currently used biomarkers for the differential diagnosis of cognitive impairment are expensive and/or relatively invasive, limiting their availability to the general population. Blood protein biomarkers have showed promising res…
View article: Hippocampal subfields’ sex differences in EOAD
Hippocampal subfields’ sex differences in EOAD Open
Background In healthy ageing, there is evidence of sex differences in vulnerability of hippocampal subfields to volume loss. However, this has not been investigated in early‐onset Alzheimer’s disease (15) and 44 healthy controls (HC; A‐T‐N…
View article: Diagnostic Performance and Clinical Applicability of Blood-Based Biomarkers in a Prospective Memory Clinic Cohort
Diagnostic Performance and Clinical Applicability of Blood-Based Biomarkers in a Prospective Memory Clinic Cohort Open
This study provides Class I evidence that plasma p-tau181 correlates with the presence or absence of AD and a combination of plasma p-tau181 and NfL correlates moderately well with a diagnosis of FTD.
View article: Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset
Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset Open
Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cogniti…
View article: Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of<i>C9orf72</i>
Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of<i>C9orf72</i> Open
Traditional methods for detecting asymptomatic brain changes in neurodegenerative diseases such as Alzheimer’s disease or frontotemporal degeneration typically evaluate changes in volume at a predefined level of granularity, e.g. voxel-wis…
View article: Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort Open
We confirmed cognitive decline in the asymptomatic and prodromal stage of genetic FTD. Specifically, tests for attention, executive function, language, and memory showed clear differences between genetic groups and controls at baseline, bu…