Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorCHADI, Gerson
dc.contributor.authorMAXIMINO, Jessica Ruivo
dc.contributor.authorJORGE, Frederico Mennucci De Haidar
dc.contributor.authorBORBA, Fabricio Castro De
dc.contributor.authorGILIO, Joyce Meire
dc.contributor.authorCALLEGARO, Dagoberto
dc.contributor.authorLOPES, Camila Galvao
dc.contributor.authorSANTOS, Samantha Nakamura Dos
dc.contributor.authorREBELO, Gabriela Natania Sales
dc.date.accessioned2017-06-09T15:34:48Z
dc.date.available2017-06-09T15:34:48Z
dc.date.issued2017
dc.description.abstractObjective: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. Methods: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n=39) and SALS (n=189) subjects from the Research Centre of the University of SAo Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses. SOD1, FUS and VAPB were also evaluated in FALS subjects. Results: Mutations were identified in FALS (61.3%) and SALS (5.3%) patients. Mutations in C9orf72 (12.8%,>45 GGGGCC hexanucleotide repeats), VAPB (43.6%, P56S) and SOD1 (7.7%, L145S) were identified in FALS subjects. Pathogenic C9orf72 expansions (2.64%) were identified in some SALS patients. Similar changes of TARDBP were found in SALS (2.64%) but not in FALS subjects. No FUS mutations were seen in any FALS subjects. Conclusions: TARDBP and C9orf72 mutations in this cohort were similar to those found in other centres worldwide. VAPB mutation (P56S) was highly prevalent in Brazilian FALS patients.
dc.description.indexMEDLINE
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2010/20457-7, 2014/21235-9]
dc.description.sponsorshipNational Council for Scientific and Technological Development (CNPq) [401922/2014-6]
dc.identifier.citationAMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, v.18, n.3-4, p.249-255, 2017
dc.identifier.doi10.1080/21678421.2016.1254245
dc.identifier.eissn2167-9223
dc.identifier.issn2167-8421
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/20082
dc.language.isoeng
dc.publisherTAYLOR & FRANCIS LTD
dc.relation.ispartofAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
dc.rightsrestrictedAccess
dc.rights.holderCopyright TAYLOR & FRANCIS LTD
dc.subjectALS gene sequencing
dc.subjectC9orf72
dc.subjectTARDPB
dc.subjectVAPB
dc.subjectSOD1
dc.subject.othercu/zn superoxide-dismutase
dc.subject.otherphenotype correlations
dc.subject.otherhexanucleotide repeat
dc.subject.othertardbp mutations
dc.subject.otherfus mutations
dc.subject.otherc9orf72 gene
dc.subject.otherals
dc.subject.othertdp-43
dc.subject.othervapb
dc.subject.otherepidemiology
dc.subject.wosClinical Neurology
dc.titleGenetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalBORBA, Fabricio Castro De:Univ Sao Paulo, Sch Med, Dept Neurol, Neuroregenerat Ctr, Sao Paulo, Brazil
hcfmusp.citation.scopus31
hcfmusp.contributor.author-fmusphcGERSON CHADI
hcfmusp.contributor.author-fmusphcJESSICA RUIVO MAXIMINO
hcfmusp.contributor.author-fmusphcFREDERICO MENNUCCI DE HAIDAR JORGE
hcfmusp.contributor.author-fmusphcJOYCE MEIRE GILIO
hcfmusp.contributor.author-fmusphcDAGOBERTO CALLEGARO
hcfmusp.contributor.author-fmusphcCAMILA GALVAO LOPES
hcfmusp.contributor.author-fmusphcSAMANTHA NAKAMURA DOS SANTOS
hcfmusp.contributor.author-fmusphcGABRIELA NATANIA SALES REBELO
hcfmusp.description.beginpage249
hcfmusp.description.endpage255
hcfmusp.description.issue3-4
hcfmusp.description.volume18
hcfmusp.origemWOS
hcfmusp.origem.pubmed27978769
hcfmusp.origem.scopus2-s2.0-85006151150
hcfmusp.origem.wosWOS:000400792800011
hcfmusp.publisher.cityABINGDON
hcfmusp.publisher.countryENGLAND
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