ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry
Abstract Intermediate-length CAG expansions (encoding 27–33 glutamines, polyQ) of the Ataxin2 ( ATXN2 ) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-len...
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| Veröffentlicht in: | Neurobiology of aging 2015-10, Vol.36 (10), p.2906.e1-2906.e5 |
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| creator | Borghero, Giuseppe Pugliatti, Maura Marrosu, Francesco Marrosu, Maria Giovanna Murru, Maria Rita Floris, Gianluca Cannas, Antonino Parish, Leslie D Cau, Tea B Loi, Daniela Ticca, Anna Traccis, Sebastiano Manera, Umberto Canosa, Antonio Moglia, Cristina Calvo, Andrea Barberis, Marco Brunetti, Maura Renton, Alan E Nalls, Mike A Traynor, Bryan J Restagno, Gabriella Chiò, Adriano |
| description | Abstract Intermediate-length CAG expansions (encoding 27–33 glutamines, polyQ) of the Ataxin2 ( ATXN2 ) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with |
| doi_str_mv | 10.1016/j.neurobiolaging.2015.06.013 |
| format | Article |
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Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.</description><identifier>ISSN: 0197-4580</identifier><identifier>EISSN: 1558-1497</identifier><identifier>DOI: 10.1016/j.neurobiolaging.2015.06.013</identifier><identifier>PMID: 26208502</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - genetics ; Amyotrophic Lateral Sclerosis - mortality ; Ataxin 2 gene ; Ataxin-2 - genetics ; Female ; Genetic Association Studies ; Genetic modifier ; Humans ; Internal Medicine ; Italy ; Male ; Middle Aged ; Neurology ; Phenotype ; Risk Factors ; Survival Rate ; Trinucleotide Repeat Expansion - genetics</subject><ispartof>Neurobiology of aging, 2015-10, Vol.36 (10), p.2906.e1-2906.e5</ispartof><rights>Elsevier Inc.</rights><rights>2015 Elsevier Inc.</rights><rights>Copyright © 2015 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c620t-1b2944020936eeb7fc8adf6b837ecdf63b68b2e8fbfc5f77526b1af878e6e6103</citedby><cites>FETCH-LOGICAL-c620t-1b2944020936eeb7fc8adf6b837ecdf63b68b2e8fbfc5f77526b1af878e6e6103</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0197458015003243$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26208502$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Borghero, Giuseppe</creatorcontrib><creatorcontrib>Pugliatti, Maura</creatorcontrib><creatorcontrib>Marrosu, Francesco</creatorcontrib><creatorcontrib>Marrosu, Maria Giovanna</creatorcontrib><creatorcontrib>Murru, Maria Rita</creatorcontrib><creatorcontrib>Floris, Gianluca</creatorcontrib><creatorcontrib>Cannas, Antonino</creatorcontrib><creatorcontrib>Parish, Leslie D</creatorcontrib><creatorcontrib>Cau, Tea B</creatorcontrib><creatorcontrib>Loi, Daniela</creatorcontrib><creatorcontrib>Ticca, Anna</creatorcontrib><creatorcontrib>Traccis, Sebastiano</creatorcontrib><creatorcontrib>Manera, Umberto</creatorcontrib><creatorcontrib>Canosa, Antonio</creatorcontrib><creatorcontrib>Moglia, Cristina</creatorcontrib><creatorcontrib>Calvo, Andrea</creatorcontrib><creatorcontrib>Barberis, Marco</creatorcontrib><creatorcontrib>Brunetti, Maura</creatorcontrib><creatorcontrib>Renton, Alan E</creatorcontrib><creatorcontrib>Nalls, Mike A</creatorcontrib><creatorcontrib>Traynor, Bryan J</creatorcontrib><creatorcontrib>Restagno, Gabriella</creatorcontrib><creatorcontrib>Chiò, Adriano</creatorcontrib><creatorcontrib>ITALSGEN and SARDINALS consortia</creatorcontrib><title>ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry</title><title>Neurobiology of aging</title><addtitle>Neurobiol Aging</addtitle><description>Abstract Intermediate-length CAG expansions (encoding 27–33 glutamines, polyQ) of the Ataxin2 ( ATXN2 ) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.</description><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Amyotrophic Lateral Sclerosis - mortality</subject><subject>Ataxin 2 gene</subject><subject>Ataxin-2 - genetics</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genetic modifier</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Italy</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Risk Factors</subject><subject>Survival Rate</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>0197-4580</issn><issn>1558-1497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkdGL1DAQxoMo3nr6L0gefG2dpG2aghwsh6vCog97gm8hTSd7WbtJSboH-9-bsnp4Pvk0AzPf9w2_IeQdg5IBE-8PpcdTDL0Lo947vy85sKYEUQKrnpEVaxpZsLprn5MVsK4t6kbCFXmV0gEA2roVL8kVFxxkA3xFNuu7H185dYlqegyDsw4jDZZO9-jDfJ6QOk_X2x2d9OzQz2kZ7nQcnHfaU-0NpjmeX5MXVo8J3_yu1-T75uPd7edi--3Tl9v1tjA5cS5Yz7u6Bg5dJRD71hqpByt6WbVoclP1QvYcpe2taWzbNlz0TFvZShQoGFTX5ObiO536Iw4mXxT1qKbojjqeVdBOPZ14d6_24UE1rKs4k9ngw8XAxJBSRPuoZaAWvuqgnvJVC18FQmW-Wf727_xH8R-geWFzWcBM4SHDVMlkbgYHF9HMagjuf5Nu_jEyY2Zu9PgTz5gO4RR9Jq2YSlyB2i2_Xl7NGoCK11X1C0g_qyE</recordid><startdate>20151001</startdate><enddate>20151001</enddate><creator>Borghero, Giuseppe</creator><creator>Pugliatti, Maura</creator><creator>Marrosu, Francesco</creator><creator>Marrosu, Maria Giovanna</creator><creator>Murru, Maria Rita</creator><creator>Floris, Gianluca</creator><creator>Cannas, Antonino</creator><creator>Parish, Leslie D</creator><creator>Cau, Tea B</creator><creator>Loi, Daniela</creator><creator>Ticca, Anna</creator><creator>Traccis, Sebastiano</creator><creator>Manera, Umberto</creator><creator>Canosa, Antonio</creator><creator>Moglia, Cristina</creator><creator>Calvo, Andrea</creator><creator>Barberis, Marco</creator><creator>Brunetti, Maura</creator><creator>Renton, Alan E</creator><creator>Nalls, Mike A</creator><creator>Traynor, Bryan J</creator><creator>Restagno, Gabriella</creator><creator>Chiò, Adriano</creator><general>Elsevier Inc</general><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>5PM</scope></search><sort><creationdate>20151001</creationdate><title>ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry</title><author>Borghero, Giuseppe ; 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Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>26208502</pmid><doi>10.1016/j.neurobiolaging.2015.06.013</doi><oa>free_for_read</oa></addata></record> |
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| ispartof | Neurobiology of aging, 2015-10, Vol.36 (10), p.2906.e1-2906.e5 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - mortality Ataxin 2 gene Ataxin-2 - genetics Female Genetic Association Studies Genetic modifier Humans Internal Medicine Italy Male Middle Aged Neurology Phenotype Risk Factors Survival Rate Trinucleotide Repeat Expansion - genetics |
| title | ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry |
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