Spinocerebellar Ataxia Type 10: Frequency of epilepsy in a large sample of Brazilian patients
Identifieur interne : 000113 ( Pmc/Curation ); précédent : 000112; suivant : 000114Spinocerebellar 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
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.
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DOI: 10.1002/mds.23324
PubMed: 20818609
PubMed Central: 3000879
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<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id><journal-id journal-id-type="pubmed-jr-id">5937</journal-id><journal-id journal-id-type="nlm-ta">Mov Disord</journal-id><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title><issn pub-type="ppub">0885-3185</issn><issn pub-type="epub">1531-8257</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20818609</article-id><article-id pub-id-type="pmc">3000879</article-id><article-id pub-id-type="doi">10.1002/mds.23324</article-id><article-id pub-id-type="manuscript">NIHMS213980</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Spinocerebellar Ataxia Type 10: Frequency of epilepsy in a large sample of Brazilian patients</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Teive</surname><given-names>Hélio A. G.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Munhoz</surname><given-names>Renato P.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Raskin</surname><given-names>Salmo</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Arruda</surname><given-names>Walter O.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>de Paola</surname><given-names>Luciano</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Werneck</surname><given-names>Lineu C.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ashizawa</surname><given-names>Tetsuo</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.</aff><aff id="A2"><label>2</label>Department of Neurology, University of Florida, Gainesville, FL, USA.</aff><author-notes><corresp id="CR1">Address correspondence and reprints requests to Dr. Hélio A.G.Teive, Rua General Carneiro 1103/102, Centro, Curitiba, Pr, Brazil, 80060-150, <email>hagteive@mps.com.br</email></corresp><fn id="FN1"><p id="P1"><bold>AUTHOR ROLES:</bold> 1. Research project: A. Conception, B. Organization, C. Execution;</p><p id="P2">2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique;</p><p id="P3">3. Manuscript: A. Writing of the first draft, B. Review and Critique;</p><p id="P4">Hélio A. G. Teive: 1A, 1B, 1C, 2A, 2B, 2C, 3A</p><p id="P5">Renato P. Munhoz: 1B, 1C, 2A, 2B, 3A, 3B;</p><p id="P6">Salmo Raskin: 1C, 2C, 3B</p><p id="P7">Walter O. Arruda: 1C, 3B</p><p id="P8">Luciano de Paola: 1C, 3A</p><p id="P9">Lineu C. Werneck: 1B, 2C, 3B</p><p id="P10">Tetsuo Ashizawa: 1A, 1C, 2C, 3B</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>6</day><month>7</month><year>2010</year></pub-date><pub-date pub-type="ppub"><day>15</day><month>12</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>12</month><year>2011</year></pub-date><volume>25</volume><issue>16</issue><fpage>2875</fpage><lpage>2878</lpage><abstract><p id="P11">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.</p></abstract><kwd-group><kwd>Spinocerebellar ataxia type 10</kwd><kwd>SCA</kwd><kwd>autosomal dominant cerebellar ataxia</kwd><kwd>epilepsy</kwd></kwd-group><contract-num rid="NS1">R01 NS041547-08
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