Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patien...
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| Veröffentlicht in: | Neurology 2004-10, Vol.63 (8), p.1509-1512 |
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| container_title | Neurology |
| container_volume | 63 |
| creator | TEIVE, H. A. G ROA, B. B RASKIN, S FANG, P ARRUDA, W. O CORREA, Y. NETO GAO, R WERNECK, L. C ASHIZAWA, T |
| description | Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families. |
| doi_str_mv | 10.1212/01.WNL.0000142109.62056.57 |
| format | Article |
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A. G ; ROA, B. B ; RASKIN, S ; FANG, P ; ARRUDA, W. O ; CORREA, Y. NETO ; GAO, R ; WERNECK, L. C ; ASHIZAWA, T</creator><creatorcontrib>TEIVE, H. A. G ; ROA, B. B ; RASKIN, S ; FANG, P ; ARRUDA, W. O ; CORREA, Y. NETO ; GAO, R ; WERNECK, L. C ; ASHIZAWA, T</creatorcontrib><description>Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/01.WNL.0000142109.62056.57</identifier><identifier>PMID: 15505178</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Adult ; Age Factors ; Age of Onset ; Aminoacid disorders ; Anticipation, Genetic - genetics ; Ataxin-10 ; Biological and medical sciences ; Brazil - epidemiology ; Child ; Comorbidity ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; Epilepsy - epidemiology ; Epilepsy - genetics ; Errors of metabolism ; Female ; Gene Frequency ; Genetic Testing ; Genotype ; Humans ; Male ; Medical sciences ; Metabolic diseases ; Mexico - epidemiology ; Middle Aged ; Mutation - genetics ; Nerve Tissue Proteins - genetics ; Neurology ; Pedigree ; Phenotype ; Spinocerebellar Ataxias - epidemiology ; Spinocerebellar Ataxias - genetics ; Spinocerebellar Ataxias - physiopathology ; Trinucleotide Repeat Expansion - genetics</subject><ispartof>Neurology, 2004-10, Vol.63 (8), p.1509-1512</ispartof><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c402t-9d378a315e6f39d022eb360b9a2daf44df6d207ee9a22c95e33076f20a724fb33</citedby><cites>FETCH-LOGICAL-c402t-9d378a315e6f39d022eb360b9a2daf44df6d207ee9a22c95e33076f20a724fb33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16207036$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15505178$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>TEIVE, H. A. G</creatorcontrib><creatorcontrib>ROA, B. B</creatorcontrib><creatorcontrib>RASKIN, S</creatorcontrib><creatorcontrib>FANG, P</creatorcontrib><creatorcontrib>ARRUDA, W. O</creatorcontrib><creatorcontrib>CORREA, Y. NETO</creatorcontrib><creatorcontrib>GAO, R</creatorcontrib><creatorcontrib>WERNECK, L. C</creatorcontrib><creatorcontrib>ASHIZAWA, T</creatorcontrib><title>Clinical phenotype of Brazilian families with spinocerebellar ataxia 10</title><title>Neurology</title><addtitle>Neurology</addtitle><description>Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.</description><subject>Adult</subject><subject>Age Factors</subject><subject>Age of Onset</subject><subject>Aminoacid disorders</subject><subject>Anticipation, Genetic - genetics</subject><subject>Ataxin-10</subject><subject>Biological and medical sciences</subject><subject>Brazil - epidemiology</subject><subject>Child</subject><subject>Comorbidity</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis</subject><subject>Epilepsy - epidemiology</subject><subject>Epilepsy - genetics</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Testing</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mexico - epidemiology</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Spinocerebellar Ataxias - epidemiology</subject><subject>Spinocerebellar Ataxias - genetics</subject><subject>Spinocerebellar Ataxias - physiopathology</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkFtLwzAUgIMobk7_ghRB31pPkiZpfdOhUxj6ouhbSNuERXoz6dD5681cYeflHA7fufAhdIEhwQSTa8DJ-_MygRA4JRjyhBNgPGHiAE0xIzzmlHwcoikAyWKaiWyCTrz_DDgjIj9GE8wYMCyyKVrMa9vaUtVRv9JtN2x6HXUmunPq19ZWtZFRTSi0j77tsIp8b9uu1E4Xuq6Vi9SgfqyKMJyiI6Nqr8_GPENvD_ev88d4-bJ4mt8u4zIFMsR5RUWmKGaaG5pXQIguKIciV6RSJk0rwysCQuvQIGXONKUguCGgBElNQekMXe329q77Wms_yMb6cvtMq7u1l1wApjnfgjc7sHSd904b2TvbKLeRGORWowQsg0a51yj_NUomwvD5eGVdNLraj47eAnA5AsoHecaptrR-z4VNAiinf8bDevg</recordid><startdate>20041026</startdate><enddate>20041026</enddate><creator>TEIVE, H. A. G</creator><creator>ROA, B. B</creator><creator>RASKIN, S</creator><creator>FANG, P</creator><creator>ARRUDA, W. O</creator><creator>CORREA, Y. NETO</creator><creator>GAO, R</creator><creator>WERNECK, L. C</creator><creator>ASHIZAWA, T</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20041026</creationdate><title>Clinical phenotype of Brazilian families with spinocerebellar ataxia 10</title><author>TEIVE, H. A. G ; ROA, B. B ; RASKIN, S ; FANG, P ; ARRUDA, W. O ; CORREA, Y. NETO ; GAO, R ; WERNECK, L. C ; ASHIZAWA, T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c402t-9d378a315e6f39d022eb360b9a2daf44df6d207ee9a22c95e33076f20a724fb33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Age Factors</topic><topic>Age of Onset</topic><topic>Aminoacid disorders</topic><topic>Anticipation, Genetic - genetics</topic><topic>Ataxin-10</topic><topic>Biological and medical sciences</topic><topic>Brazil - epidemiology</topic><topic>Child</topic><topic>Comorbidity</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Mutational Analysis</topic><topic>Epilepsy - epidemiology</topic><topic>Epilepsy - genetics</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Testing</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mexico - epidemiology</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Spinocerebellar Ataxias - epidemiology</topic><topic>Spinocerebellar Ataxias - genetics</topic><topic>Spinocerebellar Ataxias - physiopathology</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>TEIVE, H. A. G</creatorcontrib><creatorcontrib>ROA, B. B</creatorcontrib><creatorcontrib>RASKIN, S</creatorcontrib><creatorcontrib>FANG, P</creatorcontrib><creatorcontrib>ARRUDA, W. O</creatorcontrib><creatorcontrib>CORREA, Y. NETO</creatorcontrib><creatorcontrib>GAO, R</creatorcontrib><creatorcontrib>WERNECK, L. C</creatorcontrib><creatorcontrib>ASHIZAWA, T</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>TEIVE, H. A. G</au><au>ROA, B. B</au><au>RASKIN, S</au><au>FANG, P</au><au>ARRUDA, W. O</au><au>CORREA, Y. NETO</au><au>GAO, R</au><au>WERNECK, L. C</au><au>ASHIZAWA, T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical phenotype of Brazilian families with spinocerebellar ataxia 10</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2004-10-26</date><risdate>2004</risdate><volume>63</volume><issue>8</issue><spage>1509</spage><epage>1512</epage><pages>1509-1512</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>15505178</pmid><doi>10.1212/01.WNL.0000142109.62056.57</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Age Factors Age of Onset Aminoacid disorders Anticipation, Genetic - genetics Ataxin-10 Biological and medical sciences Brazil - epidemiology Child Comorbidity Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Epilepsy - epidemiology Epilepsy - genetics Errors of metabolism Female Gene Frequency Genetic Testing Genotype Humans Male Medical sciences Metabolic diseases Mexico - epidemiology Middle Aged Mutation - genetics Nerve Tissue Proteins - genetics Neurology Pedigree Phenotype Spinocerebellar Ataxias - epidemiology Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - physiopathology Trinucleotide Repeat Expansion - genetics |
| title | Clinical phenotype of Brazilian families with spinocerebellar ataxia 10 |
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