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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
TLDR
It is shown that increased methylation of CpGs in the C9orf72 promoter may explain how an increasing G4C2 size lead to loss-of-function without excluding repeat length-dependent toxic gain- of-function. Expand
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
TLDR
TFD and ALS belong to the same disease continuum, and TBK1 LOF mutations are the third most frequent cause of clinical FTD in the Belgian clinically based patient cohort, after C9orf72 and GRN, and the second most common cause ofclinical ALS after C 9orf72. Expand
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
TLDR
Compared to patients carrying GRN or C9orf72 mutations, differences are seen in age of onset, extrapyramidal symptoms, and in memory, language and behaviour in patients with FTD, ALS or FTD-ALS. Expand
Relationship between C9orf72 repeat size and clinical phenotype.
TLDR
Conclusive evidence is lacking, partly due to the difficulties in accurately defining the exact repeat size and the presence of repeat variability due to somatic mosaicism, in relation to C9orf72 repeat size as modifier for phenotypic characteristics. Expand
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion
TLDR
The clinical data provide supportive evidence for the occurrence of disease anticipation in families carrying a C9orf72 repeat expansion by means of a decrease in age at onset across successive generations, and this finding may help clinicians decide from which age onward it may be relevant to clinically follow presymptomatic individuals who carry a C 9orf 72 repeat expansion. Expand
Validation of the Semiquantitative Static SUVR Method for 18F-AV45 PET by Pharmacokinetic Modeling with an Arterial Input Function
TLDR
Increased brain uptake of 18F-AV45 assessed by the simplified static SUVR protocol does not truly reflect Aβ load, but SUVRWM is better correlated with VT and more closely reflects VT differences between aMCI and AD than SUVRCB. Expand
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
TLDR
The results of the genomic, genetic, expression and modeling analyses provided direct evidence supporting the involvement of DPP6 loss in dementia, and it is proposed that loss of function variants have a higher penetrance and disease impact, whereas the missense variants has a variable risk contribution to disease that can vary from high to low penetrance. Expand
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
TLDR
The findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms. Expand
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
TLDR
The mutation spectrum of the TANK‐Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum is investigated by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia, ALS, or FTD plus ALS ascertained within the European Early‐Onset Dementia Consortium. Expand
The Cerebrospinal Fluid Aβ1–42/Aβ1–40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer’s Disease in a Clinical Setting
TLDR
An increased concordance is detected in the visual and quantitative (standardized uptake value ratio (SUVR) and total volume of distribution (VT)) [18F]AV45 PET measures when the CSF Aβ1–42/Aβ1-40 was applied compared to Aβ 1–42 alone. Expand
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