Genetics of parkinsonism
Identifieur interne : 004444 ( Main/Exploration ); précédent : 004443; suivant : 004445Genetics of parkinsonism
Auteurs : Katrina Gwinn-Hardy [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-07.
English descriptors
- KwdEn :
- Chromosome Mapping, Essential Tremor (diagnosis), Essential Tremor (genetics), Humans, Lewy Body Disease (diagnosis), Lewy Body Disease (genetics), Lewy body, Ligases (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson's disease, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Synucleins, Ubiquitin-Protein Ligases, alpha-Synuclein, genetics, α‐synuclein.
- MESH :
- chemical , genetics : Ligases, Nerve Tissue Proteins.
- diagnosis : Essential Tremor, Lewy Body Disease, Parkinson Disease, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- genetics : Essential Tremor, Lewy Body Disease, Parkinson Disease, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- Chromosome Mapping, Humans, Synucleins, Ubiquitin-Protein Ligases, alpha-Synuclein.
Abstract
Parkinson's disease (PD) was noted to have a familial component as early as 1880 (Leroux, 1880). More recently, the discovery of several genetic factors influencing parkinsonism has emphasized the importance of heredity in PD. The clinical spectrum of familial parkinsonism is wide; it includes not only PD, but also dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), essential tremor, and other disorders. In the general population, it is likely that PD results from combined genetic and environmental factors, most of which are not yet known. The discovery of causal mutations in the gene for α‐synuclein, parkin, and of genetic linkages to chromosomes 2p4, 4p5, and three loci on 1q6–8 have revolutionized PD research. This review focuses on recent progress in the Mendelian genetics of PD and those diseases in which parkinsonism is a prominent feature, and considers how these discoveries modify our beliefs regarding the etiology and pathogenesis of these disorders.
Url:
DOI: 10.1002/mds.10173
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-07">2002-07</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="645">645</biblScope><biblScope unit="page" to="656">656</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BA05128B18943BE00EEB2C2089C97205B877D2C3</idno><idno type="DOI">10.1002/mds.10173</idno><idno type="ArticleID">MDS10173</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Mapping</term><term>Essential Tremor (diagnosis)</term><term>Essential Tremor (genetics)</term><term>Humans</term><term>Lewy Body Disease (diagnosis)</term><term>Lewy Body Disease (genetics)</term><term>Lewy body</term><term>Ligases (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Synucleins</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term><term>genetics</term><term>α‐synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term><term>Lewy Body Disease</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Lewy Body Disease</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Humans</term><term>Synucleins</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) was noted to have a familial component as early as 1880 (Leroux, 1880). More recently, the discovery of several genetic factors influencing parkinsonism has emphasized the importance of heredity in PD. The clinical spectrum of familial parkinsonism is wide; it includes not only PD, but also dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), essential tremor, and other disorders. In the general population, it is likely that PD results from combined genetic and environmental factors, most of which are not yet known. The discovery of causal mutations in the gene for α‐synuclein, parkin, and of genetic linkages to chromosomes 2p4, 4p5, and three loci on 1q6–8 have revolutionized PD research. This review focuses on recent progress in the Mendelian genetics of PD and those diseases in which parkinsonism is a prominent feature, and considers how these discoveries modify our beliefs regarding the etiology and pathogenesis of these disorders.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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