Milestones in Ataxia
Identifieur interne : 000577 ( PascalFrancis/Corpus ); précédent : 000576; suivant : 000578Milestones in Ataxia
Auteurs : Thomas Klockgether ; Henry PaulsonSource :
- Movement disorders [ 0885-3185 ] ; 2011.
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- Pascal (Inist)
English descriptors
- KwdEn :
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.
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Format Inist (serveur)
NO : | PASCAL 11-0264651 INIST |
---|---|
ET : | Milestones in Ataxia |
AU : | KLOCKGETHER (Thomas); PAULSON (Henry) |
AF : | Department of Neurology, University Hospital Bonn/Bonn/Allemagne (1 aut.); German Center for Neurodegenerative Disorder (DZNE)/Bonn/Allemagne (1 aut.); Department of Neurology, University of Michigan/Ann Arbor, Michigan/Etats-Unis (2 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2011; Vol. 26; No. 6; Pp. 1134-1141; Bibl. 48 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17G |
FD : | Ataxie; Pathologie du système nerveux; Réparation; Ion; Trouble fonctionnel; Mitochondrie; Glutamine |
FG : | Pathologie de l'encéphale; Pathologie du système nerveux central; Trouble neurologique |
ED : | Ataxia; Nervous system diseases; Repair; Ions; Dysfunction; Mitochondria; Glutamine |
EG : | Cerebral disorder; Central nervous system disease; Neurological disorder |
SD : | Ataxia; Sistema nervioso patología; Reparación; Ión; Trastorno funcional; Mitocondria; Glutamina |
LO : | INIST-20953.354000191622890190 |
ID : | 11-0264651 |
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Pascal:11-0264651Le document en format XML
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<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.</div>
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<ET>Milestones in Ataxia</ET>
<AU>KLOCKGETHER (Thomas); PAULSON (Henry)</AU>
<AF>Department of Neurology, University Hospital Bonn/Bonn/Allemagne (1 aut.); German Center for Neurodegenerative Disorder (DZNE)/Bonn/Allemagne (1 aut.); Department of Neurology, University of Michigan/Ann Arbor, Michigan/Etats-Unis (2 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
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<LA>Anglais</LA>
<EA>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.</EA>
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