[Genetics of Parkinson disease].
Identifieur interne : 001346 ( PubMed/Curation ); précédent : 001345; suivant : 001347[Genetics of Parkinson disease].
Auteurs : D. Brassat [France] ; A. Durr ; Y. Agid ; A. BriceSource :
- La Revue de medecine interne [ 0248-8663 ] ; 1999.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Phosphoproteins, Proteins.
- chemical : Ligases, Synucleins, Ubiquitin-Protein Ligases, alpha-Synuclein.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- Chromosome Mapping, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 6, Humans.
Abstract
What is the role of genetic factors in the pathophysiology of idiopathic Parkinson's disease, one of the most frequent neurodegenerative disorders? In the past two years, identification of two genes and localization of a third one have supported the hypothesis that genetics factors are involved in idiopathic Parkinson's disease. We present arguments that support such hypothesis, and describe recent advances in genetic studies of idiopathic Parkinson's disease.
PubMed: 10480176
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Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1999">1999</date><idno type="RBID">pubmed:10480176</idno><idno type="pmid">10480176</idno><idno type="wicri:Area/PubMed/Corpus">001387</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001387</idno><idno type="wicri:Area/PubMed/Curation">001346</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001346</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Genetics of Parkinson disease].</title><author><name sortKey="Brassat, D" sort="Brassat, D" uniqKey="Brassat D" first="D" last="Brassat">D. Brassat</name><affiliation wicri:level="1"><nlm:affiliation>Fédération de neurologie, hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Fédération de neurologie, hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Durr">A. Durr</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></analytic><series><title level="j">La Revue de medecine interne</title><idno type="ISSN">0248-8663</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 4</term><term>Chromosomes, Human, Pair 6</term><term>Humans</term><term>Ligases</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Phosphoproteins (genetics)</term><term>Proteins (genetics)</term><term>Synucleins</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Phosphoproteins</term><term>Proteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Ligases</term><term>Synucleins</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 4</term><term>Chromosomes, Human, Pair 6</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">What is the role of genetic factors in the pathophysiology of idiopathic Parkinson's disease, one of the most frequent neurodegenerative disorders? In the past two years, identification of two genes and localization of a third one have supported the hypothesis that genetics factors are involved in idiopathic Parkinson's disease. We present arguments that support such hypothesis, and describe recent advances in genetic studies of idiopathic Parkinson's disease.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10480176</PMID><DateCreated><Year>1999</Year><Month>10</Month><Day>04</Day></DateCreated><DateCompleted><Year>1999</Year><Month>10</Month><Day>04</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0248-8663</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>8</Issue><PubDate><Year>1999</Year><Month>Aug</Month></PubDate></JournalIssue><Title>La Revue de medecine interne</Title><ISOAbbreviation>Rev Med Interne</ISOAbbreviation></Journal><ArticleTitle>[Genetics of Parkinson disease].</ArticleTitle><Pagination><MedlinePgn>709-14</MedlinePgn></Pagination><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">What is the role of genetic factors in the pathophysiology of idiopathic Parkinson's disease, one of the most frequent neurodegenerative disorders? In the past two years, identification of two genes and localization of a third one have supported the hypothesis that genetics factors are involved in idiopathic Parkinson's disease. We present arguments that support such hypothesis, and describe recent advances in genetic studies of idiopathic Parkinson's disease.</AbstractText><AbstractText Label="CURRENT KNOWLEDGE AND KEY POINTS" NlmCategory="BACKGROUND">The first gene identified on chromosome 4 encodes alpha-synuclein. It causes a rare form of autosomal dominant Parkinson's disease. A locus on the short arm of chromosome 2 was recently identified in families with autosomal dominant Parkinson's disease. More recently, the gene encoding Parkin (located on chromosome 6) has been described. It already appears to be an important locus for juvenile parkinsonism with autosomal recessive transmission.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">We now have to understand how mutations in these genes lead to selective degeneration of dopaminergic neurons, and to determine whether or not they participate in the genetic susceptibility of idiopathic Parkinson's disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Brassat</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Fédération de neurologie, hôpital de la Pitié-Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Durr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author></AuthorList><Language>fre</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><VernacularTitle>Génétique de la maladie de Parkinson.</VernacularTitle></Article><MedlineJournalInfo><Country>France</Country><MedlineTA>Rev Med Interne</MedlineTA><NlmUniqueID>8101383</NlmUniqueID><ISSNLinking>0248-8663</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D010750">Phosphoproteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011506">Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497604">SNCA protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051843">Synucleins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.-</RegistryNumber><NameOfSubstance UI="D008025">Ligases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002894" MajorTopicYN="Y">Chromosomes, Human, Pair 4</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002896" MajorTopicYN="Y">Chromosomes, Human, Pair 6</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008025" MajorTopicYN="Y">Ligases</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010750" MajorTopicYN="N">Phosphoproteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011506" MajorTopicYN="N">Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D051843" MajorTopicYN="N">Synucleins</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044767" MajorTopicYN="Y">Ubiquitin-Protein Ligases</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051844" MajorTopicYN="N">alpha-Synuclein</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>37</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>9</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>9</Month><Day>10</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>9</Month><Day>10</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10480176</ArticleId><ArticleId IdType="pii">S0248866399804937</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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