Milestones in dystonia
Identifieur interne : 001557 ( Main/Exploration ); précédent : 001556; suivant : 001558Milestones in dystonia
Auteurs : Laurie J. Ozelius [États-Unis] ; Naomi Lubarr [États-Unis] ; Susan B. Bressman [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-05.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Carrier Proteins (genetics), Diagnostic Imaging (methods), Dystonia, Dystonia (diagnosis), Dystonia (genetics), Dystonia (history), Dystonia (therapy), History, 19th Century, History, 20th Century, History, 21st Century, Humans, Nervous system diseases, Neurophysiology, Treatment, dystonia, genetics, imaging, neurophysiology, treatments.
- MESH :
- chemical , genetics : Carrier Proteins.
- diagnosis : Dystonia.
- genetics : Dystonia.
- history : Dystonia.
- methods : Diagnostic Imaging.
- therapy : Dystonia.
- History, 19th Century, History, 20th Century, History, 21st Century, Humans, Neurophysiology.
Abstract
The last 25 years have seen remarkable advances in our understanding of the genetic etiologies of dystonia, new approaches into dissecting underlying pathophysiology, and independent progress in identifying effective treatments. In this review we highlight some of these advances, especially the genetic findings that have taken us from phenomenological to molecular‐based diagnoses. Twenty DYT loci have been designated and 10 genes identified, all based on linkage analyses in families. Hand in hand with these genetic findings, neurophysiological and imaging techniques have been employed that have helped illuminate the similarities and differences among the various etiological dystonia subtypes. This knowledge is just beginning to yield new approaches to treatment including those based on DYT1 animal models. Despite the lag in identifying genetically based therapies, effective treatments, including impressive benefits from deep brain stimulation and botulinum toxin chemodenervation, have marked the last 25 years. The challenge ahead includes continued advancement into understanding dystonia's many underlying causes and associated pathology and using this knowledge to advance treatment including preventing genetic disease expression. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23775
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>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="1106">1106</biblScope><biblScope unit="page" to="1126">1126</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">585F5332CD3ED360D6D4414A8DB585188BE8F64C</idno><idno type="DOI">10.1002/mds.23775</idno><idno type="ArticleID">MDS23775</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carrier Proteins (genetics)</term><term>Diagnostic Imaging (methods)</term><term>Dystonia</term><term>Dystonia (diagnosis)</term><term>Dystonia (genetics)</term><term>Dystonia (history)</term><term>Dystonia (therapy)</term><term>History, 19th Century</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term><term>Nervous system diseases</term><term>Neurophysiology</term><term>Treatment</term><term>dystonia</term><term>genetics</term><term>imaging</term><term>neurophysiology</term><term>treatments</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Diagnostic Imaging</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>History, 19th Century</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term><term>Neurophysiology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Neurophysiologie</term><term>Pathologie du système nerveux</term><term>Traitement</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The last 25 years have seen remarkable advances in our understanding of the genetic etiologies of dystonia, new approaches into dissecting underlying pathophysiology, and independent progress in identifying effective treatments. In this review we highlight some of these advances, especially the genetic findings that have taken us from phenomenological to molecular‐based diagnoses. Twenty DYT loci have been designated and 10 genes identified, all based on linkage analyses in families. Hand in hand with these genetic findings, neurophysiological and imaging techniques have been employed that have helped illuminate the similarities and differences among the various etiological dystonia subtypes. This knowledge is just beginning to yield new approaches to treatment including those based on DYT1 animal models. Despite the lag in identifying genetically based therapies, effective treatments, including impressive benefits from deep brain stimulation and botulinum toxin chemodenervation, have marked the last 25 years. The challenge ahead includes continued advancement into understanding dystonia's many underlying causes and associated pathology and using this knowledge to advance treatment including preventing genetic disease expression. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></region><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. 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