David Crosiers
A5023040441- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Neurological diseases and metabolism
- Nuclear Receptors and Signaling
- Autism Spectrum Disorder Research
- Restless Legs Syndrome Research
- Botulinum Toxin and Related Neurological Disorders
- RNA regulation and disease
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- Sleep and Wakefulness Research
- Amyotrophic Lateral Sclerosis Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Mindfulness and Compassion Interventions
- Glycogen Storage Diseases and Myoclonus
- CRISPR and Genetic Engineering
- Ginkgo biloba and Cashew Applications
- Neurological and metabolic disorders
- Nutrition, Genetics, and Disease
- Long-Term Effects of COVID-19
- Cerebral Palsy and Movement Disorders
University of Antwerp
2014-2025
Antwerp University Hospital
2015-2025
VIB-UAntwerp Center for Molecular Neurology
2011-2023
Ghent University Hospital
2023
Ghent University
2023
Lourdes Hospital
2023
Orthopädische Praxis
2022
University Hospital of Lausanne
2016
ZNA Middelheim Hospital
2012
Hertie Institute for Clinical Brain Research
2012
Estimates of the spectrum and frequency pathogenic variants in Parkinson's disease (PD) different populations are currently limited biased. Furthermore, although therapeutic modification several genetic targets has reached clinical trial stage, a major obstacle conducting these trials is that PD patients largely unaware their status and, therefore, cannot be recruited. Expanding number investigated PD-related genes including related to disorders with overlapping features large,...
Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of association studies Parkinson disease (PD) based on populations Caucasian descent. The extent to which these effects are consistent across different is unknown.Investigators from the Genetic Epidemiology Parkinson's Disease Consortium were invited participate study. A total 11 SNPs genotyped 8,750 cases and 8,955 controls. Fixed as well random models used provide summary risk estimates for variants. We...
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction the estimated number subjects with monogenic PD worldwide currently represented in literature availability clinical data trial‐ready cohorts limited. Objective The objectives to (1) establish an international cohort affected unaffected individuals PD‐linked variants;...
Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.We performed largest multi-center study to ascertain frequency and pathogenicity reported more than 15,000 individuals worldwide. p.Asp620Asn was detected 5 familial 2 sporadic PD cases not healthy controls, p.Leu774Met 6 1 control,...
Objective. To investigate possible neurobehavioral changes secondary to a mindfulness based intervention (MBI) training for individuals living with Parkinson's disease (PD). Background. In the context of complementary medicine, MBIs are increasingly being used stress reduction and in patient populations coping chronic illness. The use alternative medicine may be higher patients conditions such as PD. However, behavioral effects PD have not yet been reported literature this points an unmet...
Abstract Parkinson’s disease (PD) is a progressive neurodegenerative brain presenting with variety of motor and non-motor symptoms, loss midbrain dopaminergic neurons in the substantia nigra pars compacta occurrence α-synuclein-positive Lewy bodies surviving neurons. Here, we performed whole exome sequencing 52 early-onset PD patients identified 3 carriers compound heterozygous mutations ATP10B P4-type ATPase gene. Genetic screening Belgian dementia (DLB) cohort 4 additional mutation (6/617...
Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, presence movement disorders, level functional (in)dependence. In this observational study, patients with minimum age 18 years carrying (likely) pathogenic variant were recruited through medical genetics departments epilepsy centers. Treating clinicians completed clinical questionnaires...
<h3>Objectives:</h3> The objective of this study is to clarify the role (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in etiology Parkinson disease (PD) worldwide multicenter Genetic Epidemiology Parkinson9s Disease (GEO-PD) cohort. <h3>Methods:</h3> <i>C9orf72</i> repeats were assessed a GEO-PD cohort 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained Europe, Asia, North America, Australia. <h3>Results:</h3> A pathogenic...
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Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited.Cases with new-onset COVID-19-associated disorders were identified by searching the literature. Authors contacted for outcome data which reviewed analyzed.Movement began 12.6 days average after initial onset of 92% patients required hospital admission (mean duration 23 days). In a fraction (6 27; 22%; 4 males/2 females, mean age...
The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, LRRK2 to the genetic etiology Parkinson disease (PD) is still unclear because most studies did not completely analyze each gene. In a large group Belgian PD patients (N=310) control individuals (N=270), we determined mutation frequency both CNVs these five genes, using direct sequencing, multiplex amplicon quantification (MAQ), real-time PCR assays. Overall, identified 14 novel...
Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) are clinically, pathologically etiologically disorders embedded in the body (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous compound heterozygous premature termination codon (PTC) mutations Vacuolar Protein Sorting 13 homolog C gene (VPS13C) associated early-onset recessive PD. We observed two siblings age (< 45) autopsy confirmed DLB, missense VPS13C, p.Trp395Cys p.Ala444Pro, inherited from their...
Abstract Background The cooccurrence of intermediate (40–49 CAG/CAA) TBP repeat expansions with STUB1 variants questions the pathogenicity monoallelic in cerebellar ataxia. Objective objective this study was to describe phenotypic spectrum heterozygous or without expansions. Methods We determined presence and six families Results Cooccurrence both genotypes one family resulted ataxia, involving cognitive extrapyramidal complications. Variable degrees ataxia impairment were found four...
Abstract Partial phenotypic overlap has been suggested between multiple system atrophy (MSA) and spinocerebellar ataxia 27B, the autosomal dominant caused by an intronic GAA•TTC repeat expansion in FGF14. This study investigated frequency of FGF14 clinically diagnosed pathologically confirmed cases. We screened 657 cases (193 464 confirmed) 1,003 controls. The locus was genotyped using long-range PCR bidirectional repeat-primed PCRs, expansions were with targeted long-read Oxford Nanopore...
Cervical dystonia is a movement disorder typically characterized by patterned and twisting of sustained or intermittent muscle contractions. Recently, new clinical trials are emerging, highlighting the potential benefit physiotherapy (PT) on disease outcomes. Thus, objective this review to update effectiveness PT cervical outcomes subsequently perform meta-analysis.
<h3>Objectives:</h3> We aim to clarify the pathogenic role of intermediate size repeat expansions SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). <h3>Methods:</h3> invited researchers from Genetic Epidemiology Parkinson9s Disease Consortium participate in study. There were 12,346 cases 8,164 controls genotyped, a total 4 repeats within genes. Fixed- random-effects models used estimate summary estimates investigated between-study heterogeneity between...