Complex relationship between Parkin mutations and Parkinson disease
Identifieur interne : 000200 ( France/Analysis ); précédent : 000199; suivant : 000201Complex relationship between Parkin mutations and Parkinson disease
Auteurs : Andrew West [États-Unis] ; Magali Periquet [France] ; Sarah Lincoln [États-Unis] ; Christoph B. Lücking [France, Allemagne] ; David Nicholl [Royaume-Uni] ; Vincenzo Bonifati ; Nina Rawal [France] ; Thomas Gasser [Allemagne] ; Ebba Lohmann [France] ; Jean-François Deleuze [France] ; Demetrius Maraganore [États-Unis] ; Allan Levey [Géorgie (pays)] ; Nick Wood [Royaume-Uni] ; Alexandra Dürr [France] ; John Hardy [États-Unis] ; Alexis Brice [France] ; Matt Farrer [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2002-07-08.
English descriptors
Abstract
Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.10525
Affiliations:
- Allemagne, France, Géorgie (pays), Royaume-Uni, États-Unis
- Angleterre, Bavière, District de Haute-Bavière, Floride, Grand Londres, Midlands de l'Ouest, Minnesota
- Birmingham, Londres, Munich, Paris
Links toward previous steps (curation, corpus...)
- to stream Main, to step Corpus: 000A62
- to stream Main, to step Curation: 000927
- to stream Main, to step Exploration: 001921
- to stream France, to step Extraction: 000200
Links to Exploration step
ISTEX:41A276DAABBE4DD81BE39C636A9BCB4A47201263Le document en format XML
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J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-07-08">2002-07-08</date><biblScope unit="volume">114</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="584">584</biblScope><biblScope unit="page" to="591">591</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">41A276DAABBE4DD81BE39C636A9BCB4A47201263</idno><idno type="DOI">10.1002/ajmg.10525</idno><idno type="ArticleID">AJMG10525</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkin</term><term>Parkinson disease</term><term>haploinsufficiency</term><term>neurodegeneration</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>France</li><li>Géorgie (pays)</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bavière</li><li>District de Haute-Bavière</li><li>Floride</li><li>Grand Londres</li><li>Midlands de l'Ouest</li><li>Minnesota</li></region><settlement><li>Birmingham</li><li>Londres</li><li>Munich</li><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></noCountry><country name="États-Unis"><region name="Floride"><name sortKey="West, Andrew" sort="West, Andrew" uniqKey="West A" first="Andrew" last="West">Andrew West</name></region><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name></country><country name="France"><noRegion><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name></noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Deleuze, Jean Rancois" sort="Deleuze, Jean Rancois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Nicholl, David" sort="Nicholl, David" uniqKey="Nicholl D" first="David" last="Nicholl">David Nicholl</name></region><name sortKey="Wood, Nick" sort="Wood, Nick" uniqKey="Wood N" first="Nick" last="Wood">Nick Wood</name></country><country name="Géorgie (pays)"><noRegion><name sortKey="Levey, Allan" sort="Levey, Allan" uniqKey="Levey A" first="Allan" last="Levey">Allan Levey</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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