Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Identifieur interne : 000E12 ( PubMed/Checkpoint ); précédent : 000E11; suivant : 000E13Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Auteurs : Sophie E. Winder-Rhodes [Royaume-Uni] ; Pablo Garcia-Reitböck ; Maria Ban ; Jonathan R. Evans ; Thomas S. Jacques ; Anu Kemppinen ; Thomas Foltynie ; Caroline H. Williams-Gray ; Patrick F. Chinnery ; Gavin Hudson ; David J. Burn ; Liesl M. Allcock ; Stephen J. Sawcer ; Roger A. Barker ; Maria Grazia SpillantiniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Acetylglucosaminidase (genetics), Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Mucopolysaccharidosis III (genetics), Mucopolysaccharidosis III (pathology), Parkinson Disease (genetics), Parkinson Disease (pathology), Polymorphism, Single Nucleotide (genetics), alpha-Synuclein (metabolism).
- MESH :
- chemical , genetics : Acetylglucosaminidase.
- genetics : Mucopolysaccharidosis III, Parkinson Disease, Polymorphism, Single Nucleotide.
- chemical , metabolism : alpha-Synuclein.
- pathology : Mucopolysaccharidosis III, Parkinson Disease.
- Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged.
Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.
DOI: 10.1002/mds.24029
PubMed: 22102531
Affiliations:
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pubmed:22102531Le document en format XML
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Winder-Rhodes</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name></author><author><name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name></author><author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name></author><author><name sortKey="Jacques, Thomas S" sort="Jacques, Thomas S" uniqKey="Jacques T" first="Thomas S" last="Jacques">Thomas S. Jacques</name></author><author><name sortKey="Kemppinen, Anu" sort="Kemppinen, Anu" uniqKey="Kemppinen A" first="Anu" last="Kemppinen">Anu Kemppinen</name></author><author><name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name></author><author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. 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Barker</name></author><author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.24029</idno><idno type="RBID">pubmed:22102531</idno><idno type="pmid">22102531</idno><idno type="wicri:Area/PubMed/Corpus">000F58</idno><idno type="wicri:Area/PubMed/Curation">000F58</idno><idno type="wicri:Area/PubMed/Checkpoint">000E12</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.</title><author><name sortKey="Winder Rhodes, Sophie E" sort="Winder Rhodes, Sophie E" uniqKey="Winder Rhodes S" first="Sophie E" last="Winder-Rhodes">Sophie E. Winder-Rhodes</name><affiliation wicri:level="4"><nlm:affiliation>Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name></author><author><name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name></author><author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name></author><author><name sortKey="Jacques, Thomas S" sort="Jacques, Thomas S" uniqKey="Jacques T" first="Thomas S" last="Jacques">Thomas S. Jacques</name></author><author><name sortKey="Kemppinen, Anu" sort="Kemppinen, Anu" uniqKey="Kemppinen A" first="Anu" last="Kemppinen">Anu Kemppinen</name></author><author><name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name></author><author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Allcock, Liesl M" sort="Allcock, Liesl M" uniqKey="Allcock L" first="Liesl M" last="Allcock">Liesl M. Allcock</name></author><author><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name></author><author><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name></author><author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acetylglucosaminidase (genetics)</term><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mucopolysaccharidosis III (genetics)</term><term>Mucopolysaccharidosis III (pathology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>alpha-Synuclein (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Acetylglucosaminidase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mucopolysaccharidosis III</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mucopolysaccharidosis III</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">22102531</PMID><DateCreated><Year>2012</Year><Month>02</Month><Day>13</Day></DateCreated><DateCompleted><Year>2012</Year><Month>06</Month><Day>14</Day></DateCompleted><DateRevised><Year>2014</Year><Month>03</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>2</Issue><PubDate><Year>2012</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.</ArticleTitle><Pagination><MedlinePgn>312-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.24029</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We typed the 2 single-nucleotide polymorphisms that tag the common haplotypes of NAGLU in 926 PD patients and 2308 controls and also stained cortical tissue from 2 cases of Sanfilippo A syndrome using the anti-α-synuclein antibody, Per7.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Allelic analysis showed an association between rs2071046 and risk for PD (P 1.3 × 10(-3) ). Intracellular α-synuclein accumulation was observed in the cortical tissue of both Sanfilippo A syndrome cases.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This study suggests a possible role of NAGLU in susceptibility to PD while extending evidence for α-synuclein aggregation in the brain in lysosomal storage disorders. Our findings support a mechanism involving lysosomal dysfunction more generally in the pathogenesis of PD.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Winder-Rhodes</LastName><ForeName>Sophie E</ForeName><Initials>SE</Initials><AffiliationInfo><Affiliation>Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Garcia-Reitböck</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Ban</LastName><ForeName>Maria</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Evans</LastName><ForeName>Jonathan R</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Jacques</LastName><ForeName>Thomas S</ForeName><Initials>TS</Initials></Author><Author ValidYN="Y"><LastName>Kemppinen</LastName><ForeName>Anu</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Foltynie</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Williams-Gray</LastName><ForeName>Caroline H</ForeName><Initials>CH</Initials></Author><Author ValidYN="Y"><LastName>Chinnery</LastName><ForeName>Patrick F</ForeName><Initials>PF</Initials></Author><Author ValidYN="Y"><LastName>Hudson</LastName><ForeName>Gavin</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Burn</LastName><ForeName>David J</ForeName><Initials>DJ</Initials></Author><Author ValidYN="Y"><LastName>Allcock</LastName><ForeName>Liesl M</ForeName><Initials>LM</Initials></Author><Author ValidYN="Y"><LastName>Sawcer</LastName><ForeName>Stephen J</ForeName><Initials>SJ</Initials></Author><Author ValidYN="Y"><LastName>Barker</LastName><ForeName>Roger A</ForeName><Initials>RA</Initials></Author><Author ValidYN="Y"><LastName>Spillantini</LastName><ForeName>Maria Grazia</ForeName><Initials>MG</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>068545/Z/02</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>096919</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G-1102</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0000934</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0800784</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>J-0804</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>11</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.50</RegistryNumber><NameOfSubstance UI="C033079">alpha-N-acetyl-D-glucosaminidase</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.52</RegistryNumber><NameOfSubstance UI="D000118">Acetylglucosaminidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000118">Acetylglucosaminidase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009084">Mucopolysaccharidosis III</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>2</Month><Day>2</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>9</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>10</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>11</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>11</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>11</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>6</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.24029</ArticleId><ArticleId IdType="pubmed">22102531</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li></region><settlement><li>Cambridge</li></settlement><orgName><li>Université de Cambridge</li></orgName></list><tree><noCountry><name sortKey="Allcock, Liesl M" sort="Allcock, Liesl M" uniqKey="Allcock L" first="Liesl M" last="Allcock">Liesl M. Allcock</name><name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name><name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name><name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name><name sortKey="Jacques, Thomas S" sort="Jacques, Thomas S" uniqKey="Jacques T" first="Thomas S" last="Jacques">Thomas S. Jacques</name><name sortKey="Kemppinen, Anu" sort="Kemppinen, Anu" uniqKey="Kemppinen A" first="Anu" last="Kemppinen">Anu Kemppinen</name><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Winder Rhodes, Sophie E" sort="Winder Rhodes, Sophie E" uniqKey="Winder Rhodes S" first="Sophie E" last="Winder-Rhodes">Sophie E. Winder-Rhodes</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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