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Complex phenotypes in an Indian family with homozygous SCA2 mutations
We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkin...
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| Published in: | Annals of neurology 2004-01, Vol.55 (1), p.130-133 |
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| Main Authors: | , , , , , , , , , , , |
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| container_end_page | 133 |
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| container_title | Annals of neurology |
| container_volume | 55 |
| creator | Ragothaman, Mona Sarangmath, Nagaraja Chaudhary, Shashi Khare, Vishwamohini Mittal, Uma Sharma, Sangeeta Komatireddy, Sreelatha Chakrabarti, Subhabrata Mukerji, Mitali Juyal, Ramesh C. Thelma, B. K. Muthane, Uday B. |
| description | We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkinsonism without ataxia develop dyskinesias within a year of starting levodopa. Their siblings, heterozygous for SCA2 mutations, had retinitis pigmentosa with or without ataxia. Approximately 38% of family members with SCA2 mutations were asymptomatic. |
| doi_str_mv | 10.1002/ana.10815 |
| format | article |
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Approximately 38% of family members with SCA2 mutations were asymptomatic.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.10815</identifier><identifier>PMID: 14705123</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Ataxia - genetics ; Ataxins ; Biological and medical sciences ; DNA Mutational Analysis ; DNA Repeat Expansion ; Homozygote ; Humans ; India ; Male ; Medical sciences ; Middle Aged ; Nerve Tissue Proteins ; Neurology ; Parkinsonian Disorders - genetics ; Pedigree ; Phenotype ; Proteins - genetics ; Retinitis Pigmentosa - genetics</subject><ispartof>Annals of neurology, 2004-01, Vol.55 (1), p.130-133</ispartof><rights>Copyright © 2003 American Neurological Association</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3895-8ea8c2072d5484cfffb77d49c886b08c29a2d8356f39c01246a71aca4428650e3</citedby><cites>FETCH-LOGICAL-c3895-8ea8c2072d5484cfffb77d49c886b08c29a2d8356f39c01246a71aca4428650e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15995894$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14705123$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ragothaman, Mona</creatorcontrib><creatorcontrib>Sarangmath, Nagaraja</creatorcontrib><creatorcontrib>Chaudhary, Shashi</creatorcontrib><creatorcontrib>Khare, Vishwamohini</creatorcontrib><creatorcontrib>Mittal, Uma</creatorcontrib><creatorcontrib>Sharma, Sangeeta</creatorcontrib><creatorcontrib>Komatireddy, Sreelatha</creatorcontrib><creatorcontrib>Chakrabarti, Subhabrata</creatorcontrib><creatorcontrib>Mukerji, Mitali</creatorcontrib><creatorcontrib>Juyal, Ramesh C.</creatorcontrib><creatorcontrib>Thelma, B. K.</creatorcontrib><creatorcontrib>Muthane, Uday B.</creatorcontrib><title>Complex phenotypes in an Indian family with homozygous SCA2 mutations</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkinsonism without ataxia develop dyskinesias within a year of starting levodopa. Their siblings, heterozygous for SCA2 mutations, had retinitis pigmentosa with or without ataxia. Approximately 38% of family members with SCA2 mutations were asymptomatic.</description><subject>Adult</subject><subject>Aged</subject><subject>Ataxia - genetics</subject><subject>Ataxins</subject><subject>Biological and medical sciences</subject><subject>DNA Mutational Analysis</subject><subject>DNA Repeat Expansion</subject><subject>Homozygote</subject><subject>Humans</subject><subject>India</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nerve Tissue Proteins</subject><subject>Neurology</subject><subject>Parkinsonian Disorders - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Proteins - genetics</subject><subject>Retinitis Pigmentosa - genetics</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNp10MtOGzEUBmALFZEQWPAC1WxaicUUX8f2MhpRQEJhASjsrBOPpzHMreOJYHj6uk0gq66OJX_noh-hM4J_EIzpBTQQH4qIAzQlgpFUUa6_oClmGU8FYXyCjkN4xhjrjOAjNCFcYkEom6LLvK27yr0l3do17TB2LiS-SaBJbprCx1JC7asxefXDOlm3dfs-_mo3IbnP5zSpNwMMvm3CCTosoQrudFdn6PHn5UN-nd7eXd3k89vUMqVFqhwoS7GkheCK27IsV1IWXFulshWOXxpooZjISqYtJpRnIAlY4JyqTGDHZuj7dm7Xt783Lgym9sG6qoLGxauMwliqjLAIz7fQ9m0IvStN1_sa-tEQbP5mZmJm5l9m0X7dDd2salfs5S6kCL7tAAQLVdlDY33YO6G1UJpHd7F1r75y4_83mvli_rE63Xb4MLi3zw7oX0wmmRRmubgyT7nkZLl8MpL9Afv2kGc</recordid><startdate>200401</startdate><enddate>200401</enddate><creator>Ragothaman, Mona</creator><creator>Sarangmath, Nagaraja</creator><creator>Chaudhary, Shashi</creator><creator>Khare, Vishwamohini</creator><creator>Mittal, Uma</creator><creator>Sharma, Sangeeta</creator><creator>Komatireddy, Sreelatha</creator><creator>Chakrabarti, Subhabrata</creator><creator>Mukerji, Mitali</creator><creator>Juyal, Ramesh C.</creator><creator>Thelma, B. 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| language | eng |
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| subjects | Adult Aged Ataxia - genetics Ataxins Biological and medical sciences DNA Mutational Analysis DNA Repeat Expansion Homozygote Humans India Male Medical sciences Middle Aged Nerve Tissue Proteins Neurology Parkinsonian Disorders - genetics Pedigree Phenotype Proteins - genetics Retinitis Pigmentosa - genetics |
| title | Complex phenotypes in an Indian family with homozygous SCA2 mutations |
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