Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
Identifieur interne : 001996 ( Main/Exploration ); précédent : 001995; suivant : 001997Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
Auteurs : Hélio A. G. Teive [Brésil] ; Renato P. Munhoz [Brésil] ; Salmo Raskin [Brésil] ; Walter O. Arruda [Brésil] ; Luciano De Paola [Brésil] ; Lineu C. Werneck [Brésil] ; Tetsuo Ashizawa [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-12-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Age of Onset, Brazil, Cerebellar ataxia, Electroencephalography, Epilepsy, Epilepsy (complications), Epilepsy (diagnosis), Epilepsy (epidemiology), Epilepsy (genetics), Human, Humans, Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Phenotype, Prevalence, SCA, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, autosomal dominant cerebellar ataxia, epilepsy, spinocerebellar ataxia type 10.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- geographic : Brazil.
- complications : Epilepsy, Spinocerebellar Ataxias.
- diagnosis : Epilepsy.
- epidemiology : Epilepsy, Spinocerebellar Ataxias.
- genetics : Epilepsy, Spinocerebellar Ataxias.
- Adult, Age of Onset, Electroencephalography, Humans, Middle Aged, Phenotype, Prevalence.
Abstract
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society
Url:
- https://api.istex.fr/document/C6048140BB27DED1C9D458B213A803F46AA2DE92/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000879
DOI: 10.1002/mds.23324
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="2010-12-15">2010-12-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2875">2875</biblScope><biblScope unit="page" to="2878">2878</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">C6048140BB27DED1C9D458B213A803F46AA2DE92</idno><idno type="DOI">10.1002/mds.23324</idno><idno type="ArticleID">MDS23324</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Brazil</term><term>Cerebellar ataxia</term><term>Electroencephalography</term><term>Epilepsy</term><term>Epilepsy (complications)</term><term>Epilepsy (diagnosis)</term><term>Epilepsy (epidemiology)</term><term>Epilepsy (genetics)</term><term>Human</term><term>Humans</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Phenotype</term><term>Prevalence</term><term>SCA</term><term>Spinocerebellar Ataxias (complications)</term><term>Spinocerebellar Ataxias (epidemiology)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>autosomal dominant cerebellar ataxia</term><term>epilepsy</term><term>spinocerebellar ataxia type 10</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Epilepsy</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epilepsy</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Epilepsy</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsy</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Electroencephalography</term><term>Humans</term><term>Middle Aged</term><term>Phenotype</term><term>Prevalence</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie cérébelleuse</term><term>Ataxie spinocérébelleuse</term><term>Epilepsie</term><term>Homme</term><term>Pathologie du système nerveux</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</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">Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Brésil</li><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><country name="Brésil"><noRegion><name sortKey="Teive, Helio A G" sort="Teive, Helio A G" uniqKey="Teive H" first="Hélio A. G." last="Teive">Hélio A. G. Teive</name></noRegion><name sortKey="Arruda, Walter O" sort="Arruda, Walter O" uniqKey="Arruda W" first="Walter O." last="Arruda">Walter O. Arruda</name><name sortKey="De Paola, Luciano" sort="De Paola, Luciano" uniqKey="De Paola L" first="Luciano" last="De Paola">Luciano De Paola</name><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C." last="Werneck">Lineu C. Werneck</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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