MovDisordV3, Ncbi, Curation, bibRecord, 000822

Genetics of parkinsonism.

Identifieur interne : 000822 ( Ncbi/Curation ); précédent : 000821; suivant : 000823

Genetics of parkinsonism.

Auteurs : Katrina Gwinn-Hardy [États-Unis]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:12210852

English descriptors

KwdEn :
- Chromosome Mapping, Essential Tremor (diagnosis), Essential Tremor (genetics), Humans, Lewy Body Disease (diagnosis), Lewy Body Disease (genetics), Ligases (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Synucleins, Ubiquitin-Protein Ligases, alpha-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 alpha-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.

DOI: 10.1002/mds.10173
PubMed: 12210852

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003A29
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003A29
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003A73
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000822

Links to Exploration step

pubmed:12210852

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetics of parkinsonism.</title>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA. gwinnk@ninds.nih.gov</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892</wicri:regionArea>
<wicri:noRegion>Maryland 20892</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2002">2002</date>
<idno type="RBID">pubmed:12210852</idno>
<idno type="pmid">12210852</idno>
<idno type="doi">10.1002/mds.10173</idno>
<idno type="wicri:Area/PubMed/Corpus">003A29</idno>
<idno type="wicri:Area/PubMed/Curation">003A29</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003A73</idno>
<idno type="wicri:Area/Ncbi/Merge">000822</idno>
<idno type="wicri:Area/Ncbi/Curation">000822</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Genetics of parkinsonism.</title>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA. gwinnk@ninds.nih.gov</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892</wicri:regionArea>
<wicri:noRegion>Maryland 20892</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002" type="published">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</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>Ligases (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</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>
</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>
</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 alpha-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>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000822 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 000822 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:12210852
   |texte=   Genetics of parkinsonism.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i   -Sk "pubmed:12210852" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Genetics of parkinsonism.

Genetics of parkinsonism.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki