GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Identifieur interne : 000252 ( PubMed/Checkpoint ); précédent : 000251; suivant : 000253GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Auteurs : Victoria Mallett [États-Unis] ; Jay P. Ross [États-Unis] ; Roy N. Alcalay [États-Unis] ; Amirthagowri Ambalavanan [États-Unis] ; Ellen Sidransky [États-Unis] ; Patrick A. Dion [États-Unis] ; Guy A. Rouleau [États-Unis] ; Ziv Gan-Or [États-Unis]Source :
- Neurology. Genetics ; 2016.
Abstract
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder. Mild mutations may lead to GD type 1, and 2 severe mutations result in neuronopathic GD (type 2 and type 3).(4) There are 2 GBA variants, p.E326K and p.T369M, which do not cause GD in homozygous carriers, but may modify GCase activity and GD phenotype. It is now clear that p.E326K is a risk factor for PD,(5) but whether p.T369M is associated with PD is still controversial. In some studies, the p.T369M substitution was associated with PD,(6) while in others it had similar or increased frequency in controls. Of interest, it was recently demonstrated that the GBA p.T369M substitution was associated with reduced enzymatic activity in patients with PD and controls compared with that in noncarriers (7.64 vs 11.93 μmol/L/h, p < 0.001).(2) Of interest, it was even lower than the average enzymatic activity of the p.E326K substitution, which was 9.81 μmol/L/h. Because clinical trials on GBA-associated PD are ongoing, and because treatment specifically targeting GBA is likely to be available in the future, it is important to determine whether the GBA p.T369M substitution is associated with PD.
DOI: 10.1212/NXG.0000000000000104
PubMed: 27648471
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A meta-analysis.</title><author><name sortKey="Mallett, Victoria" sort="Mallett, Victoria" uniqKey="Mallett V" first="Victoria" last="Mallett">Victoria Mallett</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Ross, Jay P" sort="Ross, Jay P" uniqKey="Ross J" first="Jay P" last="Ross">Jay P. Ross</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation wicri:level="2"><nlm:affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></analytic><series><title level="j">Neurology. Genetics</title><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder. Mild mutations may lead to GD type 1, and 2 severe mutations result in neuronopathic GD (type 2 and type 3).(4) There are 2 GBA variants, p.E326K and p.T369M, which do not cause GD in homozygous carriers, but may modify GCase activity and GD phenotype. It is now clear that p.E326K is a risk factor for PD,(5) but whether p.T369M is associated with PD is still controversial. In some studies, the p.T369M substitution was associated with PD,(6) while in others it had similar or increased frequency in controls. Of interest, it was recently demonstrated that the GBA p.T369M substitution was associated with reduced enzymatic activity in patients with PD and controls compared with that in noncarriers (7.64 vs 11.93 μmol/L/h, p < 0.001).(2) Of interest, it was even lower than the average enzymatic activity of the p.E326K substitution, which was 9.81 μmol/L/h. Because clinical trials on GBA-associated PD are ongoing, and because treatment specifically targeting GBA is likely to be available in the future, it is important to determine whether the GBA p.T369M substitution is associated with PD.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">27648471</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>09</Month><Day>20</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><JournalIssue CitedMedium="Print"><Volume>2</Volume><Issue>5</Issue><PubDate><Year>2016</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Neurology. Genetics</Title><ISOAbbreviation>Neurol Genet</ISOAbbreviation></Journal><ArticleTitle>GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.</ArticleTitle><Pagination><MedlinePgn>e104</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1212/NXG.0000000000000104</ELocationID><Abstract><AbstractText>The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder. Mild mutations may lead to GD type 1, and 2 severe mutations result in neuronopathic GD (type 2 and type 3).(4) There are 2 GBA variants, p.E326K and p.T369M, which do not cause GD in homozygous carriers, but may modify GCase activity and GD phenotype. It is now clear that p.E326K is a risk factor for PD,(5) but whether p.T369M is associated with PD is still controversial. In some studies, the p.T369M substitution was associated with PD,(6) while in others it had similar or increased frequency in controls. Of interest, it was recently demonstrated that the GBA p.T369M substitution was associated with reduced enzymatic activity in patients with PD and controls compared with that in noncarriers (7.64 vs 11.93 μmol/L/h, p < 0.001).(2) Of interest, it was even lower than the average enzymatic activity of the p.E326K substitution, which was 9.81 μmol/L/h. Because clinical trials on GBA-associated PD are ongoing, and because treatment specifically targeting GBA is likely to be available in the future, it is important to determine whether the GBA p.T369M substitution is associated with PD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mallett</LastName><ForeName>Victoria</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Jay P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alcalay</LastName><ForeName>Roy N</ForeName><Initials>RN</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ambalavanan</LastName><ForeName>Amirthagowri</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sidransky</LastName><ForeName>Ellen</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dion</LastName><ForeName>Patrick A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy A</ForeName><Initials>GA</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gan-Or</LastName><ForeName>Ziv</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>09</Month><Day>08</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurol Genet</MedlineTA><NlmUniqueID>101671068</NlmUniqueID><ISSNLinking>2376-7839</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2012 Mar;71(3):370-84</RefSource><PMID Version="1">22451204</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2015 Mar 3;84(9):880-7</RefSource><PMID Version="1">25653295</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2015 Sep;138(Pt 9):2648-58</RefSource><PMID Version="1">26117366</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2011 Jan 1;20(1):202-10</RefSource><PMID Version="1">20947659</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2012 Sep;72(3):455-63</RefSource><PMID Version="1">23034917</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Cell Neurosci. 2015 May;66(Pt A):37-42</RefSource><PMID Version="1">25802027</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2009 Oct 22;361(17):1651-61</RefSource><PMID Version="1">19846850</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>05</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>08</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>9</Month><Day>21</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27648471</ArticleId><ArticleId IdType="doi">10.1212/NXG.0000000000000104</ArticleId><ArticleId IdType="pii">NG2016002766</ArticleId><ArticleId IdType="pmc">PMC5017539</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Mallett, Victoria" sort="Mallett, Victoria" uniqKey="Mallett V" first="Victoria" last="Mallett">Victoria Mallett</name></region><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><name sortKey="Ross, Jay P" sort="Ross, Jay P" uniqKey="Ross J" first="Jay P" last="Ross">Jay P. Ross</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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