Publicaties
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Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease Vrije Universiteit Brussel
OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression.
METHODS: Using linear regression and mixed-effects models, the influence of mutant and normal CAG repeat sizes interaction was assessed on 1) age at onset ...
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease Vrije Universiteit Brussel
Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the ...
Identification and characterization of Huntington related pathology Universiteit Antwerpen
An important focus of Huntington Disease (HD) research is the identification of symptom-independent biomarkers of HD neuropathology. There is an urgent need for reproducible, sensitive and specific outcome measures, which can be used to track disease onset as well as progression. Neuroimaging studies, in particular diffusion-based MRI methods, are powerful probes for characterizing the effects of disease and aging on tissue microstructure. We ...
Het nut van waanzin. Essays over darwinisme en psychiatrie KU Leuven
Geestesziekten zijn van alle tijden. Een van de oudste medische documenten, het Egyptische Ebers Papyrus, gewaagt bijvoorbeeld al van vormen van waanzin die wij tegenwoordig depressie en psychose zouden noemen. Geestesziekten zijn bovendien overerfbaar. Dat wil zeggen dat onze genen op een of andere manier een rol spelen in de vatbaarheid voor zulke ziekten. Geestesziekten komen ook betrekkelijk vaak voor – veel vaker dan erfelijke aandoeningen ...
Humane studies over de rol van de cannabinoidreceptoren en fosfodiesterase 10A enzyme in neurodegeneratieve ziekten. KU Leuven
1. Background and achievements of our research group The endocannabinoid system (ECS) is strongly involved in various physiological central nervous system (CNS) functions including motor activity, cognition, behaviour and immune response 1. CB1 receptors (CB1R) are the most widely expressed G-coupled receptors in the brain and directly or indirectly modulate major neurotransmitters such as glutamate, GABA and dopamine. CB2 receptors (CB2R) ...
Synthesis and biological evaluation of radioligands for in vivo visualization of type 2 cannabinoid receptor using positron emission tomography KU Leuven
De cannabinoid receptor type 1 (CB1R) en cannabinoid receptor type 2 (CB 2R) zijn onderdeel van het endocannabinoid systeem, dat ook endogene lig anden zoals anandamide en 2- arachidonoyl glycerol omvat, samen met meta bolisatie- en transportproteïnen. De CB1R wordt tegenwoordig uitgebreid onderzocht omwille van zijn betrokkenheid in de therapeutische en psycho actieve effecten van cannabinoïden in het centraal zenuwstelsel. De CB2R is ...
Synaptic vesicle glycoprotein 2A is affected in the CNS of Huntington’s Disease mice and post-mortem human HD brain Universiteit Antwerpen
Synaptic dysfunction is a primary mechanism underlying Huntington’s Disease (HD) progression. This study investigated changes in synaptic vesicle glycoprotein 2A (SV2A) density by means of 11C-UCB-J microPET imaging in the central nervous system (CNS) of HD mice. METHODS: Dynamic 11C-UCB-J microPET imaging was performed at clinically relevant disease stages (at 3, 7, 10, and 16 months, M) in the heterozygous knock-in Q175DN mouse model of HD and ...
In vivo imaging of synaptic density in Parkinson’s and Huntington’s disease. KU Leuven
Increasing evidence from cell or animal models and postmortem human studies suggests that synaptic pathology is important in the early disease pathophysiology of Parkinson's (PD) and Huntington's disease (HD). PET imaging with 11C‑UCB‑J, targeting the presynaptic protein SV2A, provides an in vivo marker for synaptic density in the human brain. This thesis reports two multimodal imaging studies in people with early PD and early HD respectively, ...