Milestones in ataxia
Identifieur interne : 001560 ( Main/Exploration ); précédent : 001559; suivant : 001561Milestones in ataxia
Auteurs : Thomas Klockgether [Allemagne] ; Henry Paulson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-05.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Animals, Ataxia, Ataxia (classification), Ataxia (genetics), Ataxia (history), Ataxia (therapy), Biomedical Research (history), Biomedical Research (methods), DNA repair, Dysfunction, Glutamine, History, 20th Century, History, 21st Century, Humans, Ions, Mitochondria, Nervous system diseases, Repair, ataxia, clinical scale, ion channel dysfunction, mitochondrial dysfunction, polyglutamine disorders.
- MESH :
- classification : Ataxia.
- genetics : Ataxia.
- history : Ataxia, Biomedical Research.
- methods : Biomedical Research.
- therapy : Ataxia.
- Animals, History, 20th Century, History, 21st Century, Humans.
Abstract
The past 25 years have seen enormous progress in the deciphering of the genetic and molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The most significant milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia. To date, the causative mutations of more than 30 spinocerebellar ataxias and 20 recessive ataxias have been identified. In addition, there are numerous acquired ataxias with defined molecular causes, so that the entire number of distinct ataxia disorders exceeds 50 and possibly approaches 100. Despite this enormous heterogeneity, a few recurrent pathophysiological themes stand out. These include protein aggregation, failure of protein homeostasis, perturbations in ion channel function, defects in DNA repair, and mitochondrial dysfunction. The clinical phenotypes of the most common ataxia disorders have been firmly established, and their natural history is being studied in ongoing large observational trials. Effective therapies for ataxias are still lacking. However, novel drug targets are under investigation, and it is expected that there will be an increasing number of therapeutic trials in ataxia. © 2011 Movement Disorder Society
Url:
- https://api.istex.fr/document/2781EBC4611D116E382D330A499271A4F1D1DACF/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105349
DOI: 10.1002/mds.23559
Affiliations:
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Le document en format XML
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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>Hoboken</pubPlace><date type="published" when="2011-05">2011-05</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1134">1134</biblScope><biblScope unit="page" to="1141">1141</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">2781EBC4611D116E382D330A499271A4F1D1DACF</idno><idno type="DOI">10.1002/mds.23559</idno><idno type="ArticleID">MDS23559</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Ataxia</term><term>Ataxia (classification)</term><term>Ataxia (genetics)</term><term>Ataxia (history)</term><term>Ataxia (therapy)</term><term>Biomedical Research (history)</term><term>Biomedical Research (methods)</term><term>DNA repair</term><term>Dysfunction</term><term>Glutamine</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term><term>Ions</term><term>Mitochondria</term><term>Nervous system diseases</term><term>Repair</term><term>ataxia</term><term>clinical scale</term><term>ion channel dysfunction</term><term>mitochondrial dysfunction</term><term>polyglutamine disorders</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Ataxia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term></keywords><keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Ataxia</term><term>Biomedical Research</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Biomedical Research</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Ataxia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Glutamine</term><term>Ion</term><term>Mitochondrie</term><term>Pathologie du système nerveux</term><term>Réparation</term><term>Trouble fonctionnel</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The past 25 years have seen enormous progress in the deciphering of the genetic and molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The most significant milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia. To date, the causative mutations of more than 30 spinocerebellar ataxias and 20 recessive ataxias have been identified. In addition, there are numerous acquired ataxias with defined molecular causes, so that the entire number of distinct ataxia disorders exceeds 50 and possibly approaches 100. Despite this enormous heterogeneity, a few recurrent pathophysiological themes stand out. These include protein aggregation, failure of protein homeostasis, perturbations in ion channel function, defects in DNA repair, and mitochondrial dysfunction. The clinical phenotypes of the most common ataxia disorders have been firmly established, and their natural history is being studied in ongoing large observational trials. Effective therapies for ataxias are still lacking. However, novel drug targets are under investigation, and it is expected that there will be an increasing number of therapeutic trials in ataxia. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>États-Unis</li></country><region><li>District de Cologne</li><li>Michigan</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Bonn</li></settlement></list><tree><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name></region><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name></country><country name="États-Unis"><region name="Michigan"><name sortKey="Paulson, Henry" sort="Paulson, Henry" uniqKey="Paulson H" first="Henry" last="Paulson">Henry Paulson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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