Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.

Brain / diagnostic imaging Glucosylceramidase / genetics Humans Microglia / metabolism Mutation / genetics Parkinson Disease / diagnostic imaging
Parkinson's disease glucocerebrosidase microglia positron emission tomography substantia nigra

Journal

Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688

Informations de publication

Date de publication:
03 2021
Historique:
revised: 11 10 2020
received: 15 07 2020
accepted: 19 10 2020
pubmed: 6 12 2020
medline: 28 4 2021
entrez: 5 12 2020
Statut: ppublish

Résumé

Glucocerebrosidase gene mutations are a common genetic risk factor for Parkinson's disease. They exhibit incomplete penetrance. The objective of the present study was to measure microglial activation and dopamine integrity in glucocerebrosidase gene mutation carriers without Parkinson's disease compared to controls. We performed PET scans on 9 glucocerebrosidase gene mutation carriers without Parkinson's disease and 29 age-matched controls. We measured microglial activation as The In vivo

Sections du résumé

BACKGROUND
Glucocerebrosidase gene mutations are a common genetic risk factor for Parkinson's disease. They exhibit incomplete penetrance. The objective of the present study was to measure microglial activation and dopamine integrity in glucocerebrosidase gene mutation carriers without Parkinson's disease compared to controls.
METHODS
We performed PET scans on 9 glucocerebrosidase gene mutation carriers without Parkinson's disease and 29 age-matched controls. We measured microglial activation as
RESULTS
The
CONCLUSIONS
In vivo

Identifiants

DOI: 10.1002/mds.28375 PMID: 33278043 PMC: PMC8048428
pubmed: 33278043
doi: 10.1002/mds.28375
pmc: PMC8048428
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

774-779

Subventions

Organisme : Medical Research Council
ID : MR/J009660/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N028651/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M006646/1
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Informations de copyright

© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Références

Mov Disord. 2009 Jul 30;24(10):1524-30
pubmed: 19513999
Brain. 2016 Apr;139(Pt 4):1252-64
pubmed: 26984188
J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1091-1097
pubmed: 31221723
JAMA Neurol. 2015 Feb;72(2):201-8
pubmed: 25506732
Blood Cells Mol Dis. 2011 Jan 15;46(1):95-102
pubmed: 21067946
Mov Disord. 2015 Oct;30(12):1600-11
pubmed: 26474317
Mov Disord. 2019 Sep;34(9):1365-1373
pubmed: 31251436
Arch Neurol. 2008 Mar;65(3):379-82
pubmed: 18332251
QJM. 1996 Sep;89(9):691-4
pubmed: 8917744
Mov Disord. 2010 Sep 15;25(12):1823-9
pubmed: 20669267
Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14777-82
pubmed: 16162667
Mov Disord. 2010 Dec 15;25(16):2717-23
pubmed: 20939082
Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8
pubmed: 20962279
Brain. 2005 Dec;128(Pt 12):2777-85
pubmed: 16081470
Lancet Neurol. 2009 Apr;8(4):382-97
pubmed: 19296921
Neurology. 2012 Feb 7;78(6):417-20
pubmed: 22282650
Mov Disord. 2020 May;35(5):833-844
pubmed: 32073681
Mov Disord. 2012 Apr;27(4):526-32
pubmed: 22344629
Ann Neurol. 2005 Feb;57(2):168-75
pubmed: 15668962
Hum Mol Genet. 2011 Jan 1;20(1):202-10
pubmed: 20947659
Parkinsonism Relat Disord. 2007;13 Suppl 3:S221-4
pubmed: 18267239
Parkinsonism Relat Disord. 2005 Jun;11 Suppl 1:S9-S15
pubmed: 15885630
Brain. 2017 Jul 1;140(7):2002-2011
pubmed: 28575151
PLoS One. 2013 Jul 23;8(7):e69190
pubmed: 23935950
Brain. 2009 Jul;132(Pt 7):1783-94
pubmed: 19286695
J Clin Neurol. 2011 Jun;7(2):99-101
pubmed: 21779299
Brain. 2012 Aug;135(Pt 8):2440-8
pubmed: 22843412
Lancet Neurol. 2020 Jan;19(1):71-80
pubmed: 31678032
Ann Neurol. 2016 Nov;80(5):662-673
pubmed: 27632223
Brain. 2017 Mar 1;140(3):792-803
pubmed: 28122877
Mol Genet Metab. 2004 Jul;82(3):192-207
pubmed: 15234332
Neurobiol Dis. 2006 Feb;21(2):404-12
pubmed: 16182554
Lancet Neurol. 2017 Oct;16(10):789-796
pubmed: 28684245

Auteurs

Stephen Mullin (S)

Department of Clinical and Movement Neurosciences, Institute of Neurology, UCL, London, UK.
Institute of Health and Care Research, University of Plymouth Peninsula School of Medicine, Plymouth, UK.
ORCID: 0000-0002-1936-394X

Morten Gersel Stokholm (MG)

Department of Nuclear Medicine & PET Centre, Aarhus University Hospital, Aarhus, Denmark.

Derralyn Hughes (D)

Department of Haematology, Institute of Immunity and Transplantation, UCL, London, UK.

Atul Mehta (A)

Department of Haematology, Institute of Immunity and Transplantation, UCL, London, UK.

Peter Parbo (P)

Department of Nuclear Medicine & PET Centre, Aarhus University Hospital, Aarhus, Denmark.

Rainer Hinz (R)

Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.

Nicola Pavese (N)

Department of Nuclear Medicine & PET Centre, Aarhus University Hospital, Aarhus, Denmark.
Institute of Translational and Clinical Research, Newcastle University, Newcastle, UK.
ORCID: 0000-0002-6801-6194

David J Brooks (DJ)

Department of Nuclear Medicine & PET Centre, Aarhus University Hospital, Aarhus, Denmark.
Institute of Translational and Clinical Research, Newcastle University, Newcastle, UK.

Anthony H V Schapira (AHV)

Department of Clinical and Movement Neurosciences, Institute of Neurology, UCL, London, UK.
Lysosomal storage disease unit, Royal Free Hospital, London, UK.

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Brain Microglial Activation Increased in...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Brain Microglial Activation Increased in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Brain Microglial Activation Increased in...
questionsmedicales.fr › Cellules › Névroglie › Microglie › Brain Microglial Activation Increased in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Brain Microglial Activation Increased in...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Brain Microglial Activation Increased in...