α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Identifieur interne : 000220 ( PubMed/Corpus ); précédent : 000219; suivant : 000221α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Auteurs : Ilaria Guella ; Daniel M. Evans ; Chelsea Szu-Tu ; Ekaterina Nosova ; Stephanie F. Bortnick ; Jennifer G. Goldman ; John C. Dalrymple-Alford ; Gert J. Geurtsen ; Irene Litvan ; Owen A. Ross ; Lefkos T. Middleton ; Laura Parkkinen ; Matthew J. FarrerSource :
- Annals of neurology [ 1531-8249 ] ; 2016.
Abstract
The relationship between Parkinson disease (PD), PD with dementia (PDD), and dementia with Lewy bodies (DLB) has long been debated. Although PD is primarily considered a motor disorder, cognitive impairment is often present at diagnosis, and only ∼20% of patients remain cognitively intact in the long term. Alpha-synuclein (SNCA) was first implicated in the pathogenesis of the disease when point mutations and locus multiplications were identified in familial parkinsonism with dementia. In worldwide populations, SNCA genetic variability remains the most reproducible risk factor for idiopathic PD. However, few investigators have looked at SNCA variability in terms of cognitive outcomes.
DOI: 10.1002/ana.24664
PubMed: 27091628
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.</title><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M" last="Evans">Daniel M. Evans</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Nosova, Ekaterina" sort="Nosova, Ekaterina" uniqKey="Nosova E" first="Ekaterina" last="Nosova">Ekaterina Nosova</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bortnick, Stephanie F" sort="Bortnick, Stephanie F" uniqKey="Bortnick S" first="Stephanie F" last="Bortnick">Stephanie F. Bortnick</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Goldman, Jennifer G" sort="Goldman, Jennifer G" uniqKey="Goldman J" first="Jennifer G" last="Goldman">Jennifer G. Goldman</name><affiliation><nlm:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.</nlm:affiliation></affiliation></author><author><name sortKey="Dalrymple Alford, John C" sort="Dalrymple Alford, John C" uniqKey="Dalrymple Alford J" first="John C" last="Dalrymple-Alford">John C. Dalrymple-Alford</name><affiliation><nlm:affiliation>New Zealand Brain Research Institute, Christchurch, New Zealand.</nlm:affiliation></affiliation></author><author><name sortKey="Geurtsen, Gert J" sort="Geurtsen, Gert J" uniqKey="Geurtsen G" first="Gert J" last="Geurtsen">Gert J. Geurtsen</name><affiliation><nlm:affiliation>Department of Neurology, Academic Medical Center Amsterdam, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name><affiliation><nlm:affiliation>Department of Neurosciences, University of California, Movement Disorder Center, San Diego, CA.</nlm:affiliation></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:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL.</nlm:affiliation></affiliation></author><author><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T" last="Middleton">Lefkos T. Middleton</name><affiliation><nlm:affiliation>School of Public Health, Faculty of Medicine, Imperial College, St Mary's Campus, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name><affiliation><nlm:affiliation>Oxford Parkinson's Disease Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27091628</idno><idno type="pmid">27091628</idno><idno type="doi">10.1002/ana.24664</idno><idno type="wicri:Area/PubMed/Corpus">000220</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000220</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.</title><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M" last="Evans">Daniel M. Evans</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Nosova, Ekaterina" sort="Nosova, Ekaterina" uniqKey="Nosova E" first="Ekaterina" last="Nosova">Ekaterina Nosova</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bortnick, Stephanie F" sort="Bortnick, Stephanie F" uniqKey="Bortnick S" first="Stephanie F" last="Bortnick">Stephanie F. Bortnick</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Goldman, Jennifer G" sort="Goldman, Jennifer G" uniqKey="Goldman J" first="Jennifer G" last="Goldman">Jennifer G. Goldman</name><affiliation><nlm:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.</nlm:affiliation></affiliation></author><author><name sortKey="Dalrymple Alford, John C" sort="Dalrymple Alford, John C" uniqKey="Dalrymple Alford J" first="John C" last="Dalrymple-Alford">John C. Dalrymple-Alford</name><affiliation><nlm:affiliation>New Zealand Brain Research Institute, Christchurch, New Zealand.</nlm:affiliation></affiliation></author><author><name sortKey="Geurtsen, Gert J" sort="Geurtsen, Gert J" uniqKey="Geurtsen G" first="Gert J" last="Geurtsen">Gert J. Geurtsen</name><affiliation><nlm:affiliation>Department of Neurology, Academic Medical Center Amsterdam, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name><affiliation><nlm:affiliation>Department of Neurosciences, University of California, Movement Disorder Center, San Diego, CA.</nlm:affiliation></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:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL.</nlm:affiliation></affiliation></author><author><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T" last="Middleton">Lefkos T. Middleton</name><affiliation><nlm:affiliation>School of Public Health, Faculty of Medicine, Imperial College, St Mary's Campus, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name><affiliation><nlm:affiliation>Oxford Parkinson's Disease Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><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 relationship between Parkinson disease (PD), PD with dementia (PDD), and dementia with Lewy bodies (DLB) has long been debated. Although PD is primarily considered a motor disorder, cognitive impairment is often present at diagnosis, and only ∼20% of patients remain cognitively intact in the long term. Alpha-synuclein (SNCA) was first implicated in the pathogenesis of the disease when point mutations and locus multiplications were identified in familial parkinsonism with dementia. In worldwide populations, SNCA genetic variability remains the most reproducible risk factor for idiopathic PD. However, few investigators have looked at SNCA variability in terms of cognitive outcomes.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27091628</PMID><DateCreated><Year>2016</Year><Month>05</Month><Day>27</Day></DateCreated><DateRevised><Year>2017</Year><Month>03</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN><JournalIssue CitedMedium="Internet"><Volume>79</Volume><Issue>6</Issue><PubDate><Year>2016</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Annals of neurology</Title><ISOAbbreviation>Ann. Neurol.</ISOAbbreviation></Journal><ArticleTitle>α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>991-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.24664</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">The relationship between Parkinson disease (PD), PD with dementia (PDD), and dementia with Lewy bodies (DLB) has long been debated. Although PD is primarily considered a motor disorder, cognitive impairment is often present at diagnosis, and only ∼20% of patients remain cognitively intact in the long term. Alpha-synuclein (SNCA) was first implicated in the pathogenesis of the disease when point mutations and locus multiplications were identified in familial parkinsonism with dementia. In worldwide populations, SNCA genetic variability remains the most reproducible risk factor for idiopathic PD. However, few investigators have looked at SNCA variability in terms of cognitive outcomes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We have used targeted high-throughput sequencing to characterize the 135kb SNCA locus in a large multinational cohort of patients with PD, PDD, and DLB and healthy controls.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">An analysis of 43 tagging single nucleotide polymorphisms across the SNCA locus shows 2 distinct association profiles for symptoms of parkinsonism and/or dementia, respectively, toward the 3' or the 5' of the SNCA gene. In addition, we define a specific haplotype in intron 4 that is directly associated with PDD. The PDD risk haplotype has been interrogated at single nucleotide resolution and is uniquely tagged by an expanded TTTCn repeat.</AbstractText><AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">Our data show that PD, PDD, and DLB, rather than a disease continuum, have distinct genetic etiologies albeit within one genomic locus. Such results may serve as prognostic biomarkers to these disorders, to inform physicians and patients, and to assist in the design and stratification of clinical trials aimed at disease modification. Ann Neurol 2016;79:991-999.</AbstractText><CopyrightInformation>© 2016 American Neurological Association.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Guella</LastName><ForeName>Ilaria</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Evans</LastName><ForeName>Daniel M</ForeName><Initials>DM</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Szu-Tu</LastName><ForeName>Chelsea</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nosova</LastName><ForeName>Ekaterina</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bortnick</LastName><ForeName>Stephanie F</ForeName><Initials>SF</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>SNCA Cognition Study Group</CollectiveName></Author><Author ValidYN="Y"><LastName>Goldman</LastName><ForeName>Jennifer G</ForeName><Initials>JG</Initials><AffiliationInfo><Affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dalrymple-Alford</LastName><ForeName>John C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>New Zealand Brain Research Institute, Christchurch, New Zealand.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geurtsen</LastName><ForeName>Gert J</ForeName><Initials>GJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, Academic Medical Center Amsterdam, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Litvan</LastName><ForeName>Irene</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neurosciences, University of California, Movement Disorder Center, San Diego, CA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Middleton</LastName><ForeName>Lefkos T</ForeName><Initials>LT</Initials><AffiliationInfo><Affiliation>School of Public Health, Faculty of Medicine, Imperial College, St Mary's Campus, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parkkinen</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Oxford Parkinson's Disease Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MR/L022656/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>05</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Ann Neurol</MedlineTA><NlmUniqueID>7707449</NlmUniqueID><ISSNLinking>0364-5134</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>12</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>04</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>04</Month><Day>06</Day></PubMedPubDate><PubMedPubDate 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