Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inh...
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| Veröffentlicht in: | Amyotrophic lateral sclerosis 2009-01, Vol.10 (1), p.58-60 |
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| creator | Luisa Conforti, Francesca Sprovieri, Teresa Mazzei, Rosalucia Patitucci, Alessandra Ungaro, Carmine Zoccolella, Stefano Magariello, Angela Bella, Vincenzo La Tessitore, Alessandro Tedeschi, Gioacchino Simone, Isa Laura Majorana, Giovanni Valentino, Paola Citrigno, Luigi Gabriele, Annalia Bono, Francesco Monsurrò, Maria Rosaria Muglia, Maria Quattrone, Aldo |
| description | Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation. |
| doi_str_mv | 10.1080/17482960802163853 |
| format | Article |
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In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.</description><identifier>ISSN: 1748-2968</identifier><identifier>EISSN: 1471-180X</identifier><identifier>DOI: 10.1080/17482960802163853</identifier><identifier>PMID: 18608106</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Adult ; Aged ; Amyotrophic Lateral Sclerosis - diagnosis ; Amyotrophic Lateral Sclerosis - genetics ; DNA Mutational Analysis ; Female ; Genes, Recessive ; Genetic Predisposition to Disease ; Genotype ; Humans ; Italy ; Male ; Middle Aged ; Mutation ; Superoxide Dismutase - genetics ; Superoxide Dismutase-1</subject><ispartof>Amyotrophic lateral sclerosis, 2009-01, Vol.10 (1), p.58-60</ispartof><rights>2009 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2009</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c478t-fca220ce928a8d7caedb6db7108a5053eb5471a5241ce3c37a812585ee166a8e3</citedby><cites>FETCH-LOGICAL-c478t-fca220ce928a8d7caedb6db7108a5053eb5471a5241ce3c37a812585ee166a8e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1080/17482960802163853$$EPDF$$P50$$Ginformaworld$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1080/17482960802163853$$EHTML$$P50$$Ginformaworld$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,59647,59753,60436,60542,61221,61256,61402,61437</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18608106$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Luisa Conforti, Francesca</creatorcontrib><creatorcontrib>Sprovieri, Teresa</creatorcontrib><creatorcontrib>Mazzei, Rosalucia</creatorcontrib><creatorcontrib>Patitucci, Alessandra</creatorcontrib><creatorcontrib>Ungaro, Carmine</creatorcontrib><creatorcontrib>Zoccolella, Stefano</creatorcontrib><creatorcontrib>Magariello, Angela</creatorcontrib><creatorcontrib>Bella, Vincenzo La</creatorcontrib><creatorcontrib>Tessitore, Alessandro</creatorcontrib><creatorcontrib>Tedeschi, Gioacchino</creatorcontrib><creatorcontrib>Simone, Isa Laura</creatorcontrib><creatorcontrib>Majorana, Giovanni</creatorcontrib><creatorcontrib>Valentino, Paola</creatorcontrib><creatorcontrib>Citrigno, Luigi</creatorcontrib><creatorcontrib>Gabriele, Annalia</creatorcontrib><creatorcontrib>Bono, Francesco</creatorcontrib><creatorcontrib>Monsurrò, Maria Rosaria</creatorcontrib><creatorcontrib>Muglia, Maria</creatorcontrib><creatorcontrib>Quattrone, Aldo</creatorcontrib><title>Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy</title><title>Amyotrophic lateral sclerosis</title><addtitle>Amyotroph Lateral Scler</addtitle><description>Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). 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| ispartof | Amyotrophic lateral sclerosis, 2009-01, Vol.10 (1), p.58-60 |
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| language | eng |
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| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Adult Aged Amyotrophic Lateral Sclerosis - diagnosis Amyotrophic Lateral Sclerosis - genetics DNA Mutational Analysis Female Genes, Recessive Genetic Predisposition to Disease Genotype Humans Italy Male Middle Aged Mutation Superoxide Dismutase - genetics Superoxide Dismutase-1 |
| title | Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy |
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