[Parkinson disease: monogenic forms and genetic susceptibility factors].
Identifieur interne : 001F55 ( Ncbi/Merge ); précédent : 001F54; suivant : 001F56[Parkinson disease: monogenic forms and genetic susceptibility factors].
Auteurs : A. Brice [France]Source :
- Pathologie-biologie [ 0369-8114 ] ; 1998.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Parkinson Disease.
- Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 6, Genetic Predisposition to Disease, Humans, Synucleins, alpha-Synuclein.
Abstract
Parkinson's disease (PD) is one of the most frequent neurodegenerative disorders. The role of genetic factors in its pathogenesis is supported by several lines of evidence: the high concordance in twins using PET scan; the increased risk among relatives of PD patients in case control and family studies; the existence of monogenic forms of PD. the alpha-synuclein gene is involved in a rare dominant form of the disease for which a new locus has been recently mapped to chromosome 2. Early onset autosomal recessive parkinsonism, which maps to chromosome 6q, appears to be frequent in Japan and in Europe. The genes for several monogenic forms of this entity should be identified soon, providing new insight into the pathophysiology of the disease. However, it is not clear if these genes will be relevant to apparently sporadic cases. In the long term, genotyping of affected sib-pairs should permit localisation and identification of other genetic susceptibility factors. These complementary approaches will contribute to the elucidation of the mechanism of PD and should provide new targets for drug therapies.
PubMed: 9885826
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Brice</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U289, Fédération de Neurologie, Hôpital de la Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Fédération de Neurologie, Hôpital de la Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1998">1998</date><idno type="RBID">pubmed:9885826</idno><idno type="pmid">9885826</idno><idno type="wicri:Area/PubMed/Corpus">001452</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001452</idno><idno type="wicri:Area/PubMed/Curation">001411</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001411</idno><idno type="wicri:Area/PubMed/Checkpoint">001411</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001411</idno><idno type="wicri:Area/Ncbi/Merge">001F55</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Parkinson disease: monogenic forms and genetic susceptibility factors].</title><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U289, Fédération de Neurologie, Hôpital de la Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Fédération de Neurologie, Hôpital de la Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Pathologie-biologie</title><idno type="ISSN">0369-8114</idno><imprint><date when="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosomes, Human, Pair 2</term><term>Chromosomes, Human, Pair 6</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosomes, Human, Pair 2</term><term>Chromosomes, Human, Pair 6</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is one of the most frequent neurodegenerative disorders. The role of genetic factors in its pathogenesis is supported by several lines of evidence: the high concordance in twins using PET scan; the increased risk among relatives of PD patients in case control and family studies; the existence of monogenic forms of PD. the alpha-synuclein gene is involved in a rare dominant form of the disease for which a new locus has been recently mapped to chromosome 2. Early onset autosomal recessive parkinsonism, which maps to chromosome 6q, appears to be frequent in Japan and in Europe. The genes for several monogenic forms of this entity should be identified soon, providing new insight into the pathophysiology of the disease. However, it is not clear if these genes will be relevant to apparently sporadic cases. In the long term, genotyping of affected sib-pairs should permit localisation and identification of other genetic susceptibility factors. These complementary approaches will contribute to the elucidation of the mechanism of PD and should provide new targets for drug therapies.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">9885826</PMID><DateCreated><Year>1999</Year><Month>02</Month><Day>02</Day></DateCreated><DateCompleted><Year>1999</Year><Month>02</Month><Day>02</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0369-8114</ISSN><JournalIssue CitedMedium="Print"><Volume>46</Volume><Issue>9</Issue><PubDate><Year>1998</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Pathologie-biologie</Title><ISOAbbreviation>Pathol. Biol.</ISOAbbreviation></Journal><ArticleTitle>[Parkinson disease: monogenic forms and genetic susceptibility factors].</ArticleTitle><Pagination><MedlinePgn>710-2</MedlinePgn></Pagination><Abstract><AbstractText>Parkinson's disease (PD) is one of the most frequent neurodegenerative disorders. The role of genetic factors in its pathogenesis is supported by several lines of evidence: the high concordance in twins using PET scan; the increased risk among relatives of PD patients in case control and family studies; the existence of monogenic forms of PD. the alpha-synuclein gene is involved in a rare dominant form of the disease for which a new locus has been recently mapped to chromosome 2. Early onset autosomal recessive parkinsonism, which maps to chromosome 6q, appears to be frequent in Japan and in Europe. The genes for several monogenic forms of this entity should be identified soon, providing new insight into the pathophysiology of the disease. However, it is not clear if these genes will be relevant to apparently sporadic cases. In the long term, genotyping of affected sib-pairs should permit localisation and identification of other genetic susceptibility factors. These complementary approaches will contribute to the elucidation of the mechanism of PD and should provide new targets for drug therapies.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM U289, Fédération de Neurologie, Hôpital de la Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>fre</Language><PublicationTypeList><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><VernacularTitle>Maladie de Parkinson: formes monogéniques et facteurs de susceptibilité génétique.</VernacularTitle></Article><MedlineJournalInfo><Country>France</Country><MedlineTA>Pathol Biol (Paris)</MedlineTA><NlmUniqueID>0265365</NlmUniqueID><ISSNLinking>0369-8114</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue 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></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002889" MajorTopicYN="N">Chromosomes, Human, Pair 2</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002896" MajorTopicYN="N">Chromosomes, Human, Pair 6</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D051843" MajorTopicYN="N">Synucleins</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051844" MajorTopicYN="N">alpha-Synuclein</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>0</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>1</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>1</Month><Day>14</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>1</Month><Day>14</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9885826</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. 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