The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease
Identifieur interne : 000B89 ( Main/Exploration ); précédent : 000B88; suivant : 000B90The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease
Auteurs : Raquel Duran [Royaume-Uni] ; Niccolo E. Mencacci [Royaume-Uni, Italie] ; Aikaterini V. Angeli [Royaume-Uni] ; Maryam Shoai [Royaume-Uni] ; Emma Deas [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Atul Mehta [Royaume-Uni] ; Derralynn Hughes [Royaume-Uni] ; Timothy M. Cox [Royaume-Uni] ; Patrick Deegan [Royaume-Uni] ; Anthony H. Schapira [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Paul R. Jarman [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Tom Foltynie [Royaume-Uni]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2012.
English descriptors
- KwdEn :
- Adult, Age of Onset, DNA (genetics), Databases, Genetic, European Continental Ancestry Group, Exons (genetics), Female, Gaucher Disease (epidemiology), Gaucher Disease (genetics), Gene Frequency, Glucosylceramidase (genetics), Great Britain (epidemiology), Humans, Leukocytes (enzymology), Lewy Body Disease (genetics), Lewy Body Disease (pathology), Male, Middle Aged, Molecular Sequence Data, Mutation (genetics), Open Reading Frames (genetics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Sequence Analysis, DNA, Ubiquitin-Protein Ligases (genetics), Young Adult.
- MESH :
- chemical , genetics : DNA, Glucosylceramidase, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Great Britain.
- enzymology : Leukocytes.
- epidemiology : Gaucher Disease, Parkinson Disease.
- genetics : Exons, Gaucher Disease, Lewy Body Disease, Mutation, Open Reading Frames, Parkinson Disease.
- pathology : Lewy Body Disease.
- Adult, Age of Onset, Databases, Genetic, European Continental Ancestry Group, Female, Gene Frequency, Humans, Male, Middle Aged, Molecular Sequence Data, Sequence Analysis, DNA, Young Adult.
Abstract
Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (
One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for
We show that the frequency of
Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.
Url:
DOI: 10.1002/mds.25248
PubMed: 23225227
PubMed Central: 4208290
Affiliations:
- Italie, Royaume-Uni
- Angleterre, Angleterre de l'Est, Grand Londres, Lombardie
- Cambridge, Londres, Milan
- National Hospital for Neurology and Neurosurgery, Université de Cambridge
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Le document en format XML
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Jarman</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23225227</idno><idno type="pmc">4208290</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208290</idno><idno type="RBID">PMC:4208290</idno><idno type="doi">10.1002/mds.25248</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000301</idno><idno type="wicri:Area/Pmc/Curation">000301</idno><idno type="wicri:Area/Pmc/Checkpoint">000153</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000B42</idno><idno type="wicri:Area/PubMed/Curation">000B42</idno><idno type="wicri:Area/PubMed/Checkpoint">000759</idno><idno type="wicri:Area/Ncbi/Merge">003921</idno><idno type="wicri:Area/Ncbi/Curation">003921</idno><idno type="wicri:Area/Ncbi/Checkpoint">003921</idno><idno type="wicri:doubleKey">0885-3185:2012:Duran R:the:glucocerobrosidase:e</idno><idno type="wicri:Area/Main/Merge">000B92</idno><idno type="wicri:Area/Main/Curation">000B89</idno><idno type="wicri:Area/Main/Exploration">000B89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease</title><author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mencacci, Niccolo E" sort="Mencacci, Niccolo E" uniqKey="Mencacci N" first="Niccolo E." last="Mencacci">Niccolo E. Mencacci</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Center, Universitá degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Center, Universitá degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Angeli, Aikaterini V" sort="Angeli, Aikaterini V" uniqKey="Angeli A" first="Aikaterini V." last="Angeli">Aikaterini V. Angeli</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Shoai, Maryam" sort="Shoai, Maryam" uniqKey="Shoai M" first="Maryam" last="Shoai">Maryam Shoai</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name><affiliation wicri:level="3"><nlm:aff id="A5">Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="3"><nlm:aff id="A5">Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Cox, Timothy M" sort="Cox, Timothy M" uniqKey="Cox T" first="Timothy M." last="Cox">Timothy M. Cox</name><affiliation wicri:level="4"><nlm:aff id="A6">Lysosomal Diseases Unit, Addenbrookes Hospital, and Department of Medicine, University of Cambridge, Cambridge, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Diseases Unit, Addenbrookes Hospital, and Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="4"><nlm:aff id="A6">Lysosomal Diseases Unit, Addenbrookes Hospital, and Department of Medicine, University of Cambridge, Cambridge, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Diseases Unit, Addenbrookes Hospital, and Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H." last="Schapira">Anthony H. Schapira</name><affiliation wicri:level="3"><nlm:aff id="A4">Department of Clinical Neurosciences, Institute of Neurology, UCL Medical School, Royal Free Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, Institute of Neurology, UCL Medical School, Royal Free Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R." last="Jarman">Paul R. Jarman</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><nlm:aff id="A1">Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><affiliation wicri:level="3"><nlm:aff id="A3">Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>DNA (genetics)</term><term>Databases, Genetic</term><term>European Continental Ancestry Group</term><term>Exons (genetics)</term><term>Female</term><term>Gaucher Disease (epidemiology)</term><term>Gaucher Disease (genetics)</term><term>Gene Frequency</term><term>Glucosylceramidase (genetics)</term><term>Great Britain (epidemiology)</term><term>Humans</term><term>Leukocytes (enzymology)</term><term>Lewy Body Disease (genetics)</term><term>Lewy Body Disease (pathology)</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Open Reading Frames (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Sequence Analysis, DNA</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Great Britain</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Leukocytes</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Gaucher Disease</term><term>Lewy Body Disease</term><term>Mutation</term><term>Open Reading Frames</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Body Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Databases, Genetic</term><term>European Continental Ancestry Group</term><term>Female</term><term>Gene Frequency</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (<italic>GBA1</italic>) gene, responsible for the recessive lysosomal storage disorder, Gaucher’s disease (GD), are the strongest known risk factor for Parkinson’s disease (PD). Our aim was to assess the contribution of <italic>GBA1</italic> mutations in a series of early-onset PD.</p></sec><sec id="S2"><title>Methods</title><p id="P2">One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for <italic>GBA1</italic> mutations by Sanger sequencing.</p></sec><sec id="S3"><title>Results</title><p id="P3">We show that the frequency of <italic>GBA1</italic> mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated <italic>GBA1</italic> mutation is E326K, a variant that does not, when homozygous, cause GD.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.</p></sec></div></front></TEI><affiliations><list><country><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Grand Londres</li><li>Lombardie</li></region><settlement><li>Cambridge</li><li>Londres</li><li>Milan</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li><li>Université de Cambridge</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name></region><name sortKey="Angeli, Aikaterini V" sort="Angeli, Aikaterini V" uniqKey="Angeli A" first="Aikaterini V." last="Angeli">Aikaterini V. Angeli</name><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Cox, Timothy M" sort="Cox, Timothy M" uniqKey="Cox T" first="Timothy M." last="Cox">Timothy M. Cox</name><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R." last="Jarman">Paul R. Jarman</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name><name sortKey="Mencacci, Niccolo E" sort="Mencacci, Niccolo E" uniqKey="Mencacci N" first="Niccolo E." last="Mencacci">Niccolo E. Mencacci</name><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H." last="Schapira">Anthony H. Schapira</name><name sortKey="Shoai, Maryam" sort="Shoai, Maryam" uniqKey="Shoai M" first="Maryam" last="Shoai">Maryam Shoai</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Mencacci, Niccolo E" sort="Mencacci, Niccolo E" uniqKey="Mencacci N" first="Niccolo E." last="Mencacci">Niccolo E. Mencacci</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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