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Your search keyword '"Cornelis Blauwendraat"' showing total 3 results
Start Over Author "Cornelis Blauwendraat" Journal annals of clinical and translational neurology
3 results on '"Cornelis Blauwendraat"'

1. Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients

Author

Roy N. Alcalay, Pavlina Wolf, Ming Sum Ruby Chiang, Karolina Helesicova, Xiaokui Kate Zhang, Kalpana Merchant, Samantha J. Hutten, Clemens Scherzer, Chelsea Caspell‐Garcia, Cornelis Blauwendraat, Tatiana Foroud, Kelly Nudelman, Ziv Gan‐Or, Tanya Simuni, Lana M. Chahine, Oren Levy, Dandi Zheng, Gen Li, Sergio Pablo Sardi, and The Parkinson’s Progression Markers Initiative

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective Reduction in glucocerebrosidase (GCase; encoded by GBA) enzymatic activity has been linked to Parkinson’s disease (PD). Here, we correlated GCase activity and PD phenotype in the Parkinson’s Progression Markers Initiative (PPMI) cohort. Methods We measured GCase activity in dried blood spots from 1559 samples of participants in the inception PPMI cohort, collected in four annual visits (from baseline visit to Year‐3). Participants (PD, n = 392; controls, n = 175) were fully sequenced for GBA variants by means of genome‐wide genotyping arrays, whole‐exome sequencing, whole‐genome sequencing, Sanger sequencing, and RNA‐sequencing. Results Fifty‐two PD participants (13.4%) and 13 (7.4%) controls carried a GBA variant. GBA status was strongly associated with GCase activity. Among noncarriers, GCase activity was similar between PD and controls. Among GBA p.E326K carriers (PD, n = 20; controls, n = 5), activity was significantly lower in PD carriers than control carriers (9.53 µmol/L/h vs. 11.68 µmol/L/h, P = 0.035). Glucocerebrosidase activity was moderately (r = 0.45) associated with white blood cell (WBC) count. Next, we divided the noncarriers with PD to tertiles based on WBC count‐corrected enzymatic activity. Members of the lower tertile had higher MDS‐Unified Parkinson’s Disease Rating Scale motor score in the “off” medication examination at year‐III exam. Longitudinal analyses demonstrated slight reduction of activity in samples collected earlier on in the study, likely because of longer storage time. Interpretation GCase activity is associated with GBA genotype, WBC count, and among p.E326K variant carriers, with PD status. Reduced activity may also be associated with worse phenotype but longer follow up is required to confirm this observation.

Published
2020
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2. MIDN locus structural variants and Parkinson's Disease risk

Author

Kimberley J. Billingsley, Sara Bandres‐Ciga, Jinhui Ding, Dena Hernandez, J. Raphael Gibbs, Cornelis Blauwendraat, and the International Parkinson’s Disease Genomics Consortium (IPDGC)

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Published
2020
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3. Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients

Author

Pavlina Wolf, Samantha J. Hutten, Clemens R. Scherzer, Ziv Gan-Or, Ming Sum Ruby Chiang, Dandi Zheng, Sergio Pablo Sardi, Tanya Simuni, Kalpana Merchant, Chelsea Caspell-Garcia, Tatiana Foroud, Xiaokui Kate Zhang, Roy N. Alcalay, Parkinson's Progression Markers Initiative, Kelly N.H. Nudelman, Cornelis Blauwendraat, Oren A. Levy, Karolina Helesicova, Gen Li, Lana M. Chahine, and Michael J Fox Foundation

Subjects
Male, Gastroenterology, DISEASE, Glucocerebrosidase activity, Genotype, Dried blood, Research Articles, Sanger sequencing, General Neuroscience, Parkinson Disease, Middle Aged, Mental Status and Dementia Tests, medicine.anatomical_structure, Phenotype, Cohort, LYSOSOMAL STORAGE DISORDERS, symbols, Disease Progression, Glucosylceramidase, Female, Life Sciences & Biomedicine, RC321-571, Research Article, Adult, medicine.medical_specialty, Heterozygote, Clinical Neurology, Neurosciences. Biological psychiatry. Neuropsychiatry, symbols.namesake, Internal medicine, White blood cell, medicine, Humans, Parkinson’s Progression Markers Initiative, RC346-429, Science & Technology, business.industry, MUTATIONS, Neurosciences, 1103 Clinical Sciences, Wbc count, PERFORMANCE, Mutation, Dementia, Neurology (clinical), Neurology. Diseases of the nervous system, Neurosciences & Neurology, business, 1109 Neurosciences, Glucocerebrosidase
Abstract

Author(s): Alcalay, Roy N; Wolf, Pavlina; Chiang, Ming Sum Ruby; Helesicova, Karolina; Zhang, Xiaokui Kate; Merchant, Kalpana; Hutten, Samantha J; Scherzer, Clemens; Caspell-Garcia, Chelsea; Blauwendraat, Cornelis; Foroud, Tatiana; Nudelman, Kelly; Gan-Or, Ziv; Simuni, Tanya; Chahine, Lana M; Levy, Oren; Zheng, Dandi; Li, Gen; Sardi, Sergio Pablo; Parkinson’s Progression Markers Initiative | Abstract: ObjectiveReduction in glucocerebrosidase (GCase; encoded by GBA) enzymatic activity has been linked to Parkinson's disease (PD). Here, we correlated GCase activity and PD phenotype in the Parkinson's Progression Markers Initiative (PPMI) cohort.MethodsWe measured GCase activity in dried blood spots from 1559 samples of participants in the inception PPMI cohort, collected in four annual visits (from baseline visit to Year-3). Participants (PD, nn=n392; controls, nn=n175) were fully sequenced for GBA variants by means of genome-wide genotyping arrays, whole-exome sequencing, whole-genome sequencing, Sanger sequencing, and RNA-sequencing.ResultsFifty-two PD participants (13.4%) and 13 (7.4%) controls carried a GBA variant. GBA status was strongly associated with GCase activity. Among noncarriers, GCase activity was similar between PD and controls. Among GBA p.E326K carriers (PD, nn=n20; controls, nn=n5), activity was significantly lower in PD carriers than control carriers (9.53nµmol/L/h vs. 11.68nµmol/L/h, Pn=n0.035). Glucocerebrosidase activity was moderately (rn=n0.45) associated with white blood cell (WBC) count. Next, we divided the noncarriers with PD to tertiles based on WBC count-corrected enzymatic activity. Members of the lower tertile had higher MDS-Unified Parkinson's Disease Rating Scale motor score in the "off" medication examination at year-III exam. Longitudinal analyses demonstrated slight reduction of activity in samples collected earlier on in the study, likely because of longer storage time.InterpretationGCase activity is associated with GBA genotype, WBC count, and among p.E326K variant carriers, with PD status. Reduced activity may also be associated with worse phenotype but longer follow up is required to confirm this observation.

Published
2020

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