The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease
Identifieur interne : 000301 ( Pmc/Curation ); précédent : 000300; suivant : 000302The 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 J. Lees [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.
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
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Mencacci</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Shoai, Maryam" sort="Shoai, Maryam" uniqKey="Shoai M" first="Maryam" last="Shoai">Maryam Shoai</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="1"><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></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="1"><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></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="1"><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></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="1"><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></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><affiliation wicri:level="1"><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></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></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="1"><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></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="1"><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></affiliation><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Shoai, Maryam" sort="Shoai, Maryam" uniqKey="Shoai M" first="Maryam" last="Shoai">Maryam Shoai</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="1"><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></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="1"><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></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="1"><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></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="1"><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></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><affiliation wicri:level="1"><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></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></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id><journal-id journal-id-type="pubmed-jr-id">5937</journal-id><journal-id journal-id-type="nlm-ta">Mov Disord</journal-id><journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id><journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title></journal-title-group><issn pub-type="ppub">0885-3185</issn><issn pub-type="epub">1531-8257</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23225227</article-id><article-id pub-id-type="pmc">4208290</article-id><article-id pub-id-type="doi">10.1002/mds.25248</article-id><article-id pub-id-type="manuscript">EMS51549</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease</article-title></title-group><contrib-group><contrib contrib-type="author" equal-contrib="yes"><name><surname>Duran</surname><given-names>Raquel</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Mencacci</surname><given-names>Niccolo E.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Angeli</surname><given-names>Aikaterini V.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Shoai</surname><given-names>Maryam</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Deas</surname><given-names>Emma</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, MRCP, PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mehta</surname><given-names>Atul</given-names></name><degrees>FRCP</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Hughes</surname><given-names>Derralynn</given-names></name><degrees>MA, DPhilN FRCP, FRCPath</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Cox</surname><given-names>Timothy M.</given-names></name><degrees>MD, FRCP, FMedSci</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Deegan</surname><given-names>Patrick</given-names></name><degrees>MD, FRCP Edin, FRCPath</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Schapira</surname><given-names>Anthony H.</given-names></name><degrees>MD, FRCP, FMedSci</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lees</surname><given-names>Andrew J.</given-names></name><degrees>MD, FRCP</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Limousin</surname><given-names>Patricia</given-names></name><degrees>MN, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Jarman</surname><given-names>Paul R.</given-names></name><degrees>PhD, FRCP</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bhatia</surname><given-names>Kailash P.</given-names></name><degrees>MD, DM, FRCP</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Nicholas W.</given-names></name><degrees>PhD FRCP FMedSci</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>John</given-names></name><degrees>PhD, FMedSci, FRS</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib><contrib contrib-type="author"><name><surname>Foltynie</surname><given-names>Tom</given-names></name><degrees>PhD, MRCP</degrees><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK</aff><aff id="A2"><label>2</label>Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Center, Universitá degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milan, Italy</aff><aff id="A3"><label>3</label>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK</aff><aff id="A4"><label>4</label>Department of Clinical Neurosciences, Institute of Neurology, UCL Medical School, Royal Free Hospital, London, UK</aff><aff id="A5"><label>5</label>Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London, UK</aff><aff id="A6"><label>6</label>Lysosomal Diseases Unit, Addenbrookes Hospital, and Department of Medicine, University of Cambridge, Cambridge, UK</aff><author-notes><corresp id="CR1"><label>*</label><bold>Correspondence to:</bold> Prof. John Hardy, Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; <email>j.hardy@ucl.ac.uk</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>20</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>05</day><month>12</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>24</day><month>10</month><year>2014</year></pub-date><volume>28</volume><issue>2</issue><fpage>232</fpage><lpage>236</lpage><pmc-comment>elocation-id from pubmed: 10.1002/mds.25248</pmc-comment>
<permissions><copyright-statement>© 2012 Movement Disorder Society</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><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></abstract><kwd-group><kwd>GBA</kwd><kwd>E326K</kwd><kwd>Parkinson’s disease</kwd><kwd>Gaucher’s disease</kwd><kwd>early onset</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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