Complicated recessive dystonia parkinsonism syndromes
Identifieur interne : 000B29 ( Main/Exploration ); précédent : 000B28; suivant : 000B30Complicated recessive dystonia parkinsonism syndromes
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; John Hardy [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-03-15.
English descriptors
- KwdEn :
Abstract
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene‐proven cases. We concentrate on PANK2‐, PLA2G6‐, ATP13A2‐, FBX07, TAF1‐, and PRKRA‐associated neurodegeneration. Parkin, PINK1, and DJ‐1 are also briefly reviewed. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22314
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Complicated recessive dystonia parkinsonism syndromes</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A91680883B79BEB68301E371ACFBFFE8A7632AFA</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22314</idno><idno type="url">https://api.istex.fr/document/A91680883B79BEB68301E371ACFBFFE8A7632AFA/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001160</idno><idno type="wicri:Area/Main/Curation">000F63</idno><idno type="wicri:Area/Main/Exploration">000B29</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Complicated recessive dystonia parkinsonism syndromes</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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>Hoboken</pubPlace><date type="published" when="2009-03-15">2009-03-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="490">490</biblScope><biblScope unit="page" to="499">499</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A91680883B79BEB68301E371ACFBFFE8A7632AFA</idno><idno type="DOI">10.1002/mds.22314</idno><idno type="ArticleID">MDS22314</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>NBIA</term><term>dystonia</term><term>genetic</term><term>parkinsonism</term><term>recessive</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene‐proven cases. We concentrate on PANK2‐, PLA2G6‐, ATP13A2‐, FBX07, TAF1‐, and PRKRA‐associated neurodegeneration. Parkin, PINK1, and DJ‐1 are also briefly reviewed. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B29 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000B29 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:A91680883B79BEB68301E371ACFBFFE8A7632AFA
|texte= Complicated recessive dystonia parkinsonism syndromes
}}
| This area was generated with Dilib version V0.6.23. |  |