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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucosidase-beta variations and Lewy Body Disorders</title><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Williams, Lindsey N" sort="Williams, Lindsey N" uniqKey="Williams L" first="Lindsey N." last="Williams">Lindsey N. Williams</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Algom, Avi A" sort="Algom, Avi A" uniqKey="Algom A" first="Avi A." last="Algom">Avi A. Algom</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan Canada</nlm:aff></affiliation></author><author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><affiliation><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff></affiliation></author><author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name><affiliation><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="A2">Department of Pathology, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18829375</idno><idno type="pmc">2970615</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2970615</idno><idno type="RBID">PMC:2970615</idno><idno type="doi">10.1016/j.parkreldis.2008.08.004</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000453</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000453</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucosidase-beta variations and Lewy Body Disorders</title><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Williams, Lindsey N" sort="Williams, Lindsey N" uniqKey="Williams L" first="Lindsey N." last="Williams">Lindsey N. Williams</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Algom, Avi A" sort="Algom, Avi A" uniqKey="Algom A" first="Avi A." last="Algom">Avi A. Algom</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan Canada</nlm:aff></affiliation></author><author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><affiliation><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff></affiliation></author><author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name><affiliation><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="A2">Department of Pathology, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="ISSN">1353-8020</idno><idno type="eISSN">1873-5126</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">It has been proposed that there is an increased frequency of <italic>glucosidase-β</italic> mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of <italic>glucosidase-β</italic> mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3 – 29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests <italic>glucosidase-β</italic> variants have a limited role in susceptibility to Lewy body disease in North America.</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9513583</journal-id><journal-id journal-id-type="pubmed-jr-id">21522</journal-id><journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id><journal-title>Parkinsonism & related disorders</journal-title><issn pub-type="ppub">1353-8020</issn><issn pub-type="epub">1873-5126</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18829375</article-id><article-id pub-id-type="pmc">2970615</article-id><article-id pub-id-type="doi">10.1016/j.parkreldis.2008.08.004</article-id><article-id pub-id-type="manuscript">NIHMS131148</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Glucosidase-beta variations and Lewy Body Disorders</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Lindsey N.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Algom</surname><given-names>Avi A.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kachergus</surname><given-names>Jennifer</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hulihan</surname><given-names>Mary M.</given-names></name><degrees>MSc</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Rajput</surname><given-names>Alex</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Papapetropoulos</surname><given-names>Spiridon</given-names></name><degrees>MD PhD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Mash</surname><given-names>Deborah C.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</aff><aff id="A2"><label>2</label>Department of Pathology, Mayo Clinic College of Medicine, Jacksonville, Florida</aff><aff id="A3"><label>3</label>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</aff><aff id="A4"><label>4</label>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan Canada</aff><aff id="A5"><label>5</label>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</aff><author-notes><corresp id="cor1"><label>*</label>Corresponding author: Matthew J. Farrer PhD, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, Division of Neurogenetics, 4500 San Pablo Road, Jacksonville, FL 32224, Tel: (904)-953-0158, Fax: (904)-953-7370, Email: <email>farrer.matthew@mayo.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>22</day><month>7</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>1</day><month>10</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>2</day><month>11</month><year>2010</year></pub-date><volume>15</volume><issue>6</issue><fpage>414</fpage><lpage>416</lpage><abstract><p id="P1">It has been proposed that there is an increased frequency of <italic>glucosidase-β</italic> mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of <italic>glucosidase-β</italic> mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3 – 29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests <italic>glucosidase-β</italic> variants have a limited role in susceptibility to Lewy body disease in North America.</p></abstract><kwd-group><kwd>Gaucher</kwd><kwd>Parkinson</kwd><kwd>Genetic</kwd><kwd>Lewy body</kwd></kwd-group><contract-num rid="NS1">P50 NS040256-109002
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