Perry T.C. van Doormaal
A5038898678- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Neurological and metabolic disorders
- Folate and B Vitamins Research
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Muscle metabolism and nutrition
- Genomics and Rare Diseases
- Virology and Viral Diseases
- Peripheral Neuropathies and Disorders
- Prion Diseases and Protein Misfolding
- Pharmacological Effects of Natural Compounds
- Genetic Associations and Epidemiology
- Pain Mechanisms and Treatments
- Monoclonal and Polyclonal Antibodies Research
- Ophthalmology and Eye Disorders
- Alzheimer's disease research and treatments
- Public health and occupational medicine
- Metalloenzymes and iron-sulfur proteins
- Pharmacological Effects and Toxicity Studies
- Neurological Complications and Syndromes
University Medical Center Utrecht
2011-2023
Tergooi
2021-2023
Johns Hopkins Medicine
2023
Johns Hopkins University
2023
Utrecht University
2012-2014
<h3>Background</h3> Variation in the incidence rate epidemiological studies on amyotrophic lateral sclerosis (ALS) may be due to a small population size and under ascertainment of patients. The previously reported decline elderly decrease male:female ratio postmenopausal age groups have yet confirmed. <h3>Methods</h3> ALS epidemiology large based register Netherlands was studied between 1 January 2006 31 December 2009, applied capture–recapture methodology separate gender adjust for number...
<h3>Background</h3> It has been hypothesised that physical activity is a risk factor for developing amyotrophic lateral sclerosis (ALS), fuelled by observations professional soccer players and Gulf War veterans are at increased risk. In population based study, we determined the relation between of sporadic ALS, using an objective approach assessing activity. <h3>Methods</h3> 636 ALS patients 2166 controls, both based, completed semistructured questionnaire on lifetime history occupations,...
Abstract We have previously shown higher-than-expected rates of schizophrenia in relatives patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate genetic ALS and using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, estimate correlation to be 14.3% (7.05–21.6; P =1 × 10 −4 ) polygenic risk scores explaining up 0.12% variance ( =8.4 −7 ). A...
<h3>Objective:</h3> To assess the frequency and phenotype of hexanucleotide repeat expansions in <i>C9ORF72</i> a large cohort patients Dutch descent with familial (fALS) sporadic (sALS) amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary (PLS). <h3>Methods:</h3> Included were 78 fALS, 1,422 sALS, 246 PMA, 110 PLS, 768 control subjects. Repeat determined by primed PCR. Familial aggregation dementia Parkinson disease (PD) was examined among ALS who carried...
Because dietary intake may influence pathophysiologic mechanisms in sporadic amyotrophic lateral sclerosis (ALS), the association between premorbid and risk of ALS will provide insight into which are possibly involved pathophogenesis.To systematically determine ALS.A population-based case-control study was conducted a general community setting Netherlands from January 1, 2006, to September 30, 2011. Analysis April 2013, November 15, 2014. All patients with new diagnosis possible, probable...
Abstract Increasingly, repeat expansions are being identified as part of the complex genetic architecture amyotrophic lateral sclerosis. To date, several have been genetically associated with disease: intronic in C9orf72, polyglutamine ATXN2 and polyalanine NIPA1. Together previously published data, identification an sclerosis patient a family history spinocerebellar ataxia type 1, caused by ATXN1, suggested similar disease association for expansion ATXN1. We, therefore, performed...
Abstract Background International consensus on IgM ± anti‐MAG PNP (IgM PNP) is lacking. Despite increasing interest in clinical trials, validated disease‐specific measures are needed to adequately capture limitations and changes over time. The IMAGiNe anti‐myelin associated glycoprotein [MAG] peripheral neuropathy) study surges as an international collaboration create a standardized registry of patients with PNP. consortium, which currently consists 11 institutions from 7 countries, presents...
Objective Determine vitamin B12 threshold levels below which additional testing of methylmalonic acid (MMA) and/or homocysteine (Hcy) is useful to diagnose metabolic deficiency in patients with polyneuropathy, and how B12, MMA Hcy relate the effect supplementation therapy.Methods In a retrospective cohort study 331 were measured. Linear regression models as dependent or covariate compared, assess was best related B12. Threshold for (defined elevatede metabolites) determined using logistic...
The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis; however, results were conflicting: no genes recurrent occurring identified and different pathways postulated. In study, we analyzed whole-exome data from 82 new patient-parents trios it datasets all previously published ALS (173 total). per patient rate was not higher than...
Abstract The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility of disease. We have therefore begun Project MinE, an international collaboration that seeks analyse whole-genome sequence data at least 15,000 ALS patients and 7,500 controls. Here, we report on the design MinE pilot analyses newly sequenced 1,264 611 controls drawn Netherlands. As has become...
Why only half of the idiopathic peripheral neuropathy (IPN) patients develop neuropathic pain remains unknown. By conducting a proteomics analysis on IPN patients, we aimed to discover proteins and new pathways that are associated with pain.
In recent years, an increasing number of people adapt to a vegetarian, pescatarian or flexitarian dietary pattern that reduces the consumption meat and fish. Although these patterns have risk for developing vitamin B12 deficiency associated polyneuropathy, it is unknown whether this still increased when levels are adequate.To examine with idiopathic axonal polyneuropathy.We conducted case-control study included 256 polyneuropathy patients adequate blood 630 controls. We used questionnaire...