The molecular biology of the autosomal‐dominant cerebellar ataxias
Identifieur interne : 004942 ( Main/Exploration ); précédent : 004941; suivant : 004943The molecular biology of the autosomal‐dominant cerebellar ataxias
Auteurs : Thomas Klockgether [Allemagne] ; Ullrich Wüllner [Allemagne] ; Alexander Spauschus [Royaume-Uni] ; Bernd Evert [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Chromosome Aberrations (genetics), Chromosome Disorders, DNA Mutational Analysis, Diagnosis, Differential, Episodic ataxia, Exploration, Genes, Dominant (genetics), Human, Humans, Molecular biology, Nerve Tissue Proteins (genetics), Neuronal intranuclear inclusion, Review, Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Spinocerebellar heredodegeneration.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- classification : Spinocerebellar Ataxias.
- diagnosis : Spinocerebellar Ataxias.
- genetics : Chromosome Aberrations, Genes, Dominant, Spinocerebellar Ataxias.
- Chromosome Disorders, DNA Mutational Analysis, Diagnosis, Differential, Humans.
Abstract
Autosomal‐dominant cerebellar ataxias (ADCA) may present as progressive or paroxysmal disorders. While the progressive ataxias have been named spinocerebellar ataxias (SCA), the paroxysmal disorders are designated episodic ataxias (EA). Until now, three different mutational mechanisms resulting in distinctive pathogenesis have been identified. The first type of mutation present in SCA1, SCA2, SCA3, and SCA7 is an expanded CAG repeat in genes of unknown function that are translated into proteins with expanded polyglutamine tracts. A common ultrastructural feature of these disorders is the formation of neuronal intranuclear inclusions (NII) harboring the expanded disease proteins and a variety of other proteins. The pathogenic role of these inclusions has yet to be clarified. A second group of disorders is the result of mutations in genes that code for ion channels. In EA‐1, a disorder characterized by episodes of ataxia provoked by movement and startle, missense mutations in a potassium channel gene, KCNA1, have been found. Patients with EA‐2, another form of paroxysmal ataxia, carry nonsense mutations of the gene encoding the α1A voltage‐dependent calcium channel subunit, CACNA1A, that are predicted to result in truncated channel proteins. In SCA6, a progressive ataxia, an expanded CAG repeat in the 3` translated region of the CACNA1A gene, has been found. The third type of mutation is an untranslated CTG expansion resembling the mutation found in myotonic dystrophy. It is associated with a progressive ataxia, SCA8.
Url:
DOI: 10.1002/1531-8257(200007)15:4<604::AID-MDS1004>3.0.CO;2-K
Affiliations:
- Allemagne, Royaume-Uni
- Angleterre, District de Cologne, Grand Londres, Rhénanie-du-Nord-Westphalie
- Bonn, Londres
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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>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-07">2000-07</date><biblScope unit="vol">15</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="604">604</biblScope><biblScope unit="page" to="612">612</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B7BA6E12D141E592EDBD976DBF724CAEEFAE7431</idno><idno type="DOI">10.1002/1531-8257(200007)15:4<604::AID-MDS1004>3.0.CO;2-K</idno><idno type="ArticleID">MDS1004</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Episodic ataxia</term><term>Exploration</term><term>Genes, Dominant (genetics)</term><term>Human</term><term>Humans</term><term>Molecular biology</term><term>Nerve Tissue Proteins (genetics)</term><term>Neuronal intranuclear inclusion</term><term>Review</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Spinocerebellar heredodegeneration</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Genes, Dominant</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Disorders</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Article synthèse</term><term>Biologie moléculaire</term><term>Exploration</term><term>Homme</term><term>Hérédodégénérescence spinocérébelleuse</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal‐dominant cerebellar ataxias (ADCA) may present as progressive or paroxysmal disorders. While the progressive ataxias have been named spinocerebellar ataxias (SCA), the paroxysmal disorders are designated episodic ataxias (EA). Until now, three different mutational mechanisms resulting in distinctive pathogenesis have been identified. The first type of mutation present in SCA1, SCA2, SCA3, and SCA7 is an expanded CAG repeat in genes of unknown function that are translated into proteins with expanded polyglutamine tracts. A common ultrastructural feature of these disorders is the formation of neuronal intranuclear inclusions (NII) harboring the expanded disease proteins and a variety of other proteins. The pathogenic role of these inclusions has yet to be clarified. A second group of disorders is the result of mutations in genes that code for ion channels. In EA‐1, a disorder characterized by episodes of ataxia provoked by movement and startle, missense mutations in a potassium channel gene, KCNA1, have been found. Patients with EA‐2, another form of paroxysmal ataxia, carry nonsense mutations of the gene encoding the α1A voltage‐dependent calcium channel subunit, CACNA1A, that are predicted to result in truncated channel proteins. In SCA6, a progressive ataxia, an expanded CAG repeat in the 3` translated region of the CACNA1A gene, has been found. The third type of mutation is an untranslated CTG expansion resembling the mutation found in myotonic dystrophy. It is associated with a progressive ataxia, SCA8.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>District de Cologne</li><li>Grand Londres</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Bonn</li><li>Londres</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="Evert, Bernd" sort="Evert, Bernd" uniqKey="Evert B" first="Bernd" last="Evert">Bernd Evert</name><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wüllner">Ullrich Wüllner</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Spauschus, Alexander" sort="Spauschus, Alexander" uniqKey="Spauschus A" first="Alexander" last="Spauschus">Alexander Spauschus</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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