α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Identifieur interne : 000108 ( PubMed/Checkpoint ); précédent : 000107; suivant : 000109α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Auteurs : Ilaria Guella [Canada] ; Daniel M. Evans [Canada] ; Chelsea Szu-Tu [Canada] ; Ekaterina Nosova [Canada] ; Stephanie F. Bortnick [Canada] ; Jennifer G. Goldman [États-Unis] ; John C. Dalrymple-Alford [Nouvelle-Zélande] ; Gert J. Geurtsen [Pays-Bas] ; Irene Litvan [États-Unis] ; Owen A. Ross [États-Unis] ; Lefkos T. Middleton [Royaume-Uni] ; Laura Parkkinen [Royaume-Uni] ; Matthew J. Farrer [Canada]Source :
- 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
Affiliations:
- Canada, Nouvelle-Zélande, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Californie, Floride, Grand Londres, Illinois, Oxfordshire
- Londres, Oxford
- Université d'Oxford
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Evans</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Nosova, Ekaterina" sort="Nosova, Ekaterina" uniqKey="Nosova E" first="Ekaterina" last="Nosova">Ekaterina Nosova</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 wicri:level="2"><nlm:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Department of Neurological Sciences, Rush University Medical Center, Chicago</wicri:cityArea></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 wicri:level="1"><nlm:affiliation>New Zealand Brain Research Institute, Christchurch, New Zealand.</nlm:affiliation><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>New Zealand Brain Research Institute, Christchurch</wicri:regionArea><wicri:noRegion>Christchurch</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Department of Neurology, Academic Medical Center Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center Amsterdam</wicri:regionArea><wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion></affiliation></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurosciences, University of California, Movement Disorder Center, San Diego, CA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Neurosciences, University of California, Movement Disorder Center, San Diego</wicri:cityArea></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 wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Neuroscience, Mayo Clinic, Jacksonville</wicri:cityArea></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 wicri:level="3"><nlm:affiliation>School of Public Health, Faculty of Medicine, Imperial College, St Mary's Campus, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Public Health, Faculty of Medicine, Imperial College, St Mary's Campus, 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="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name><affiliation wicri:level="4"><nlm:affiliation>Oxford Parkinson's Disease Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Parkinson's Disease Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></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 wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 PubStatus="entrez"><Year>2016</Year><Month>4</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>4</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>4</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27091628</ArticleId><ArticleId IdType="doi">10.1002/ana.24664</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>Nouvelle-Zélande</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>Floride</li><li>Grand Londres</li><li>Illinois</li><li>Oxfordshire</li></region><settlement><li>Londres</li><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name></noRegion><name sortKey="Bortnick, Stephanie F" sort="Bortnick, Stephanie F" uniqKey="Bortnick S" first="Stephanie F" last="Bortnick">Stephanie F. Bortnick</name><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M" last="Evans">Daniel M. Evans</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Nosova, Ekaterina" sort="Nosova, Ekaterina" uniqKey="Nosova E" first="Ekaterina" last="Nosova">Ekaterina Nosova</name><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name></country><country name="États-Unis"><region name="Illinois"><name sortKey="Goldman, Jennifer G" sort="Goldman, Jennifer G" uniqKey="Goldman J" first="Jennifer G" last="Goldman">Jennifer G. Goldman</name></region><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></country><country name="Nouvelle-Zélande"><noRegion><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></noRegion></country><country name="Pays-Bas"><noRegion><name sortKey="Geurtsen, Gert J" sort="Geurtsen, Gert J" uniqKey="Geurtsen G" first="Gert J" last="Geurtsen">Gert J. Geurtsen</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T" last="Middleton">Lefkos T. Middleton</name></region><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000108 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 000108 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:27091628
|texte= α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:27091628" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |