| pubmed-article:19676102 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19676102 | lifeskim:mentions | umls-concept:C0752121 | lld:lifeskim |
| pubmed-article:19676102 | lifeskim:mentions | umls-concept:C0205341 | lld:lifeskim |
| pubmed-article:19676102 | lifeskim:mentions | umls-concept:C0439659 | lld:lifeskim |
| pubmed-article:19676102 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:19676102 | lifeskim:mentions | umls-concept:C0443239 | lld:lifeskim |
| pubmed-article:19676102 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19676102 | pubmed:dateCreated | 2010-2-26 | lld:pubmed |
| pubmed-article:19676102 | pubmed:abstractText | The spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by gait and limb ataxia. This disease is caused by the expansion of a (CAG)(n) located in the ATXN2, that encodes a polyglutamine tract of more than 34 repeats. Lately, alleles with 32-33 CAGs have been associated to late-onset disease cases. Repeat interruptions by CAA triplets are common in normal alleles, while expanded alleles usually contain a pure repeat tract. To investigate the mutational origin and the instability associated to the ATXN2 repeat, we performed an extensive haplotype study and sequencing of the CAG/CAA repeat, in a cohort of families of different geographic origins and phenotypes. Our results showed (1) CAA interruptions also in expanded ATXN2 alleles; (2) that pathological CAA interrupted alleles shared an ancestral haplotype with pure expanded alleles; and (3) higher genetic diversity in European SCA2 families, suggesting an older European ancestry of SCA2. In conclusion, we found instability towards expansion in interrupted ATXN2 alleles and a shared ancestral ATXN2 haplotype for pure and interrupted expanded alleles; this finding has strong implications in mutation diagnosis and counseling. Our results indicate that interrupted alleles, below the pathological threshold, may be a reservoir of mutable alleles, prone to expansion in subsequent generations, leading to full disease mutation. | lld:pubmed |
| pubmed-article:19676102 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19676102 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19676102 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19676102 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19676102 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19676102 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19676102 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19676102 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19676102 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:19676102 | pubmed:issn | 1552-485X | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:SequeirosJorg... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:MartinsSandra... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:AlonsoIsabelI | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:SilveiraIsabe... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:CoutinhoPaula... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:JardimLaura... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:Saraiva-Perei... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:RamosEliana... | lld:pubmed |
| pubmed-article:19676102 | pubmed:author | pubmed-author:EmmelVanessa... | lld:pubmed |
| pubmed-article:19676102 | pubmed:copyrightInfo | (c) 2009 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:19676102 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19676102 | pubmed:day | 5 | lld:pubmed |
| pubmed-article:19676102 | pubmed:volume | 153B | lld:pubmed |
| pubmed-article:19676102 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19676102 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19676102 | pubmed:pagination | 524-31 | lld:pubmed |
| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
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| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
| pubmed-article:19676102 | pubmed:meshHeading | pubmed-meshheading:19676102... | lld:pubmed |
| pubmed-article:19676102 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:19676102 | pubmed:articleTitle | Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). | lld:pubmed |
| pubmed-article:19676102 | pubmed:affiliation | UnIGENe, IBMC-Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal. | lld:pubmed |
| pubmed-article:19676102 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19676102 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6311 | entrezgene:pubmed | pubmed-article:19676102 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19676102 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19676102 | lld:pubmed |
