16 Result(s)
within
Sebastiaan Engelborghs
Pathology
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Article
Open AccessGenome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated b...
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Open AccessContribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease
Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein ...
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Article
Open AccessMutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
Parkinson’s disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta ...
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Open AccessLoss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of n...
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Article
Open AccessAn intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer’s disease (AD). The influence of other genetic variants in ABCA7
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Open AccessDeleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer’s ...
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Open AccessA comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer’s disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-ons...
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Open AccessInvestigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains
TAR DNA-binding protein 43 (TDP-43) inclusions are pathological hallmarks of patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Loss of TDP-43 in zebrafish engender...
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Open AccessTDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies
Frontotemporal lobar degeneration (FTLD) is one of the leading causes of dementia after Alzheimer’s disease. A high-ranking candidate to become a diagnostic marker for a major pathological subtype of FTLD is t...
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Techniques, Contraindications, and Complications of CSF Collection Procedures
Lumbar puncture (LP), also known as spinal tap, is the most frequently used technique through which the restricted compartment of the subarachnoid space is accessed to sample cerebrospinal fluid. An LP can hav...
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Article
Open AccessRare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding se...
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Article
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
Heterozygous loss-of-function mutations in the progranulin (GRN) gene and the resulting reduction of GRN levels is a common genetic cause for frontotemporal lobar degeneration (FTLD) with accumulation of TAR DNA-...
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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common...
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Article
Open AccessPromoter DNA methylation regulates progranulin expression and is altered in FTLD
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of neurodegenerative diseases associated with personality changes and progressive dementia. Loss-of-function mutations in the growth factor pro...
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Open AccessThe genetics and neuropathology of frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of language impairment with or without concomitant f...
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Open AccessFUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis...
