Evidence map›Paper›PMID 32371106›Full record

ArticleNeurobiology of aging2020

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.

Bouchra Ouled Amar Bencheikh, Konstantin Senkevich, Uladzislau Rudakou, Eric Yu, Kheireddin Mufti, Jennifer A Ruskey, Farnaz Asayesh, Sandra B Laurent, Dan Spiegelman, Stanley Fahn and 11 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Are rare heterozygousmedRxiv : the preprint server for health sciences · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022
    Review
  11. Insights into Lewy body disease from rare neurometabolic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2021
    Review
  12. Review
  13. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 7 institutions in 4 countries.

Bouchra Ouled Amar BencheikhMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Centre de Recherche, Centre Hospitalier de l'Universite de Montreal, Montreal, Quebec, Canada.
Konstantin SenkevichMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Uladzislau RudakouMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Eric YuMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Kheireddin MuftiMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Jennifer A RuskeyMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Farnaz AsayeshMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Sandra B LaurentMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Dan SpiegelmanMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
Stanley FahnDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Cheryl WatersDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Oury MonchiDepartment of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Clinical Neurosciences and Department of Radiology, University of Calgary, Calgary, Alberta, Canada; Hotchkiss Brain Institute, Cumming School of Medicine, Calgary, Alberta, Canada.
Yves DauvilliersDepartment of Neurology, National Reference Center for Narcolepsy, Sleep Unit, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
Alberto J EspayDepartment of Neurology, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH, USA.
Nicolas DupréDivision of Neurosciences, CHU de Québec, Université Laval, Quebec City, Quebec, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Québec, Quebec, Canada.
Lior GreenbaumSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.
Sharon Hassin-BaerSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; Department of Neurology, The Movement Disorders Institute, Sheba Medical Center, Tel Hashomer, Israel.
Guy A RouleauMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Roy N AlcalayDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.
Edward A FonMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Ziv Gan-OrMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mcgill.ca.
Montreal Neurological Institute and Hospital · CAColumbia University Irving Medical Center · USTel Aviv University · ILUniversité de Montpellier · FRUniversité Laval · CAUniversity of Calgary · CAUniversity of Cincinnati · US

Funding

Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
CIHR FDN 154301NCATS NIH HHS UL1 TR000040NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

Biallelic variants in NPC1, a gene coding for a lysosomal transmembrane protein involved in cholesterol trafficking, may cause Niemann-Pick disease type C (NPC). A few cases of NPC1 variant carriers with Parkinson's disease (PD) have been reported. In addition, pathologic studies have demonstrated phosphorylated alpha-synuclein and Lewy pathology in brains of NPC patients. Therefore, we aimed to examine whether NPC1 genetic variants may be associated with PD. Full sequencing of NPC1 was performed in 2657 PD patients and 3647 controls from 3 cohorts, using targeted sequencing with molecular inversion probes. A total of 9 common variants and 126 rare variants were identified across the 3 cohorts. To examine their association with PD, regression models adjusted for age, sex, and origin were performed for common variants, and optimal sequence Kernel association test (SKAT-O) was performed for rare variants. After correction for multiple comparisons, common and rare NPC1 variants were not associated with PD. Our results do not support a link between heterozygous variants in NPC1 and PD.

Indexed as

Genetic Association StudiesGenetic VariationNegative ResultsAgedalpha-SynucleinFemaleHumansIntracellular Signaling Peptides and ProteinsLysosomesMaleMiddle AgedNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CParkinson Diseasealpha-SynucleinIntracellular Signaling Peptides and ProteinsNiemann-Pick C1 ProteinNPC1 protein, humanLysosomal genesNiemann–Pick disease type CNPC1Parkinson's disease

Identifiers

PMID32371106
PMCPMC7302975
OpenAlexW3015277181

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.