Harro Seelaar
A5049091731- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetic Neurodegenerative Diseases
- Functional Brain Connectivity Studies
- Genetics and Neurodevelopmental Disorders
- Neurological Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Neurobiology of Language and Bilingualism
- Bioinformatics and Genomic Networks
- S100 Proteins and Annexins
- Health Systems, Economic Evaluations, Quality of Life
- Cholinesterase and Neurodegenerative Diseases
- RNA regulation and disease
- Healthcare Decision-Making and Restraints
- Mitochondrial Function and Pathology
- Advanced MRI Techniques and Applications
- Medical Imaging Techniques and Applications
- Epigenetics and DNA Methylation
Erasmus MC
2015-2025
Erasmus University Rotterdam
2015-2025
University of Brescia
2024
University of Pavia
2024
Munich Cluster for Systems Neurology
2024
Ludwig-Maximilians-Universität München
2024
Universitat de Barcelona
2024
Hospital Clínic de Barcelona
2024
Fundació Clínic per a la Recerca Biomèdica
2024
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2024
Based on the recent literature and collective experience, an international consortium developed revised guidelines for diagnosis of behavioural variant frontotemporal dementia. The validation process retrospectively reviewed clinical records compared sensitivity proposed earlier criteria in a multi-site sample patients with pathologically verified lobar degeneration. According to criteria, 'possible' dementia requires three six clinically discriminating features (disinhibition,...
There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, hexanucleotide repeat expansion in C9orf72 was identified as major cause both sporadic familial sclerosis. The aim this study to investigate clinical neuropathological characteristics expansions large cohort Dutch patients with dementia. Repeat were successfully determined 353 or without sclerosis, 522 neurologically normal controls. Immunohistochemistry...
Diagnostic incidence data for syndromes associated with frontotemporal lobar degeneration (FTLD) in multinational studies are urgent light of upcoming therapeutic approaches.To assess the FTLD across Europe.The Frontotemporal Dementia Incidence European Research Study (FRONTIERS) was a retrospective cohort study conducted from June 1, 2018, to May 31, 2019, using population-based registry 13 tertiary research clinics UK, Netherlands, Finland, Sweden, Spain, Bulgaria, Serbia, Germany, and...
Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, present here the first comprehensive analysis of these cases in terms neuropathology, genetics, demographics clinical data. 92% (34/37) had fused sarcoma (FUS) pathology, indicating that FTLD-FUS is important FTLD subtype. This collection specifically focussed on aFTLD-U one three recently defined subtypes FTLD-FUS. The subtype...
<b>Background: </b> Frontotemporal dementia (FTD) is the second most common type of presenile and can be distinguished into various clinical variants. The identification <i>MAPT</i> <i>GRN</i> defects discovery TDP-43 protein in FTD have led to classification pathologic genetic subtypes. In addition these subtypes, there exist familial forms with unknown defects. <b>Methods: We investigated frequency, demographic, data patients a positive family history our prospective cohort 364 patients....
We aimed to investigate whether cognitive deficits and structural functional connectivity changes can be detected before symptom onset in a large cohort of carriers microtubule-associated protein tau progranulin mutations.In this case-control study, 75 healthy individuals (aged 20-70 years) with 50% risk for frontotemporal dementia (FTD) underwent DNA screening, neuropsychological assessment, MRI. used voxel-based morphometry tract-based spatial statistics voxelwise analyses gray matter...
Frontotemporal lobar degeneration (FTLD) is a clinically, genetically and pathologically heterogeneous disorder. Within FTLD with ubiquitin-positive inclusions (FTLD-U), new pathological subtype named FTLD-FUS was recently found fused in sarcoma (FUS) positive, TDP-43-negative inclusions, striking atrophy of the caudate nucleus. The aim this study to determine frequency our series, describe clinical, neuroimaging neuropathological features FTLD-FUS, especially atrophy. Demographic clinical...
<h3>Objective:</h3> We aimed to investigate whether cognitive deficits and structural functional connectivity changes can be detected before symptom onset in a large cohort of carriers <i>MAPT</i> (microtubule-associated protein tau) or <i>GRN</i> (progranulin) mutations. <h3>Methods:</h3> In this case-control study, 75 healthy individuals (aged 20–70 years) with 50% risk frontotemporal dementia (FTD) underwent DNA screening, neuropsychological assessment, MRI, fMRI. used voxel-based...
To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with progranulin (GRN), an important cause frontotemporal lobar degeneration (FTLD).A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases FTLD TAR DNA-binding protein 43-kDa (TDP-43)-positive inclusions (FTLD-TDP). We identified FTLD-TDP pathogenic GRN (GRN+ FTLD-TDP), assessed genetic clinical characteristics, compared them 453 patients...
Synapse dysfunction is emerging as an early pathological event in frontotemporal dementia (FTD), however biomarkers are lacking. We aimed to investigate the value of cerebrospinal fluid (CSF) neuronal pentraxins (NPTXs), a family proteins involved homeostatic synapse plasticity, novel genetic FTD.We included 106 presymptomatic and 54 symptomatic carriers pathogenic mutation GRN, C9orf72 or MAPT, 70 healthy non-carriers participating Genetic Frontotemporal Initiative (GENFI), all whom had at...
Connections among brain regions allow pathological perturbations to spread from a single source region multiple regions. Patterns of neurodegeneration in diseases, including behavioural variant frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate structural network organization remains unknown. Here we investigate whether sporadic and genetic bvFTD are conditioned by connectome architecture. Regional were estimated both...
Abstract Background The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral motor impairment (MCBMI). objective study was to validate research MCBMI-FTD in a cohort genetically confirmed FTD cases against healthy controls. Methods A total 398 participants were enrolled, 117 whom carriers an pathogenic variant with symptoms, while 281 non-carrier family members...
<h3>Objective</h3> To compare survival and to identify prognostic predictors for progressive supranuclear palsy frontotemporal dementia. <h3>Background</h3> Progressive (PSP) dementia (FTD) are related disorders. Homozygosity H1 haplotype is associated with PSP, whereas several <i>MAPT</i> mutations have been identified in FTLD-τ. Survival duration probably reflects underlying pathophysiology or disease. <h3>Methods</h3> Patients PSP FTD were recruited by nationwide referral. of 354 patients...
<h3>Background</h3> Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases associated with TAR DNA-binding protein 43– ubiquitin-immunoreactive pathologic lesions. <h3>Objective</h3> To determine whether survival is influenced by symptom of onset in patients frontotemporal sclerosis. <h3>Design, Setting, Patients</h3> Retrospective review both cognitive impairment motor neuron disease consecutively evaluated at 4 academic medical centers 2 countries....
Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between groups. 480 mutation carriers from Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical volumes interest...