Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPCHADI, GersonMAXIMINO, Jessica RuivoJORGE, Frederico Mennucci De HaidarBORBA, Fabricio Castro DeGILIO, Joyce MeireCALLEGARO, DagobertoLOPES, Camila GalvaoSANTOS, Samantha Nakamura DosREBELO, Gabriela Natania Sales2017-06-092017-06-092017AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, v.18, n.3-4, p.249-255, 20172167-8421https://observatorio.fm.usp.br/handle/OPI/20082Objective: 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.engrestrictedAccessALS gene sequencingC9orf72TARDPBVAPBSOD1cu/zn superoxide-dismutasephenotype correlationshexanucleotide repeattardbp mutationsfus mutationsc9orf72 genealstdp-43vapbepidemiologyarticleCopyright TAYLOR & FRANCIS LTD10.1080/21678421.2016.1254245Clinical Neurology2167-9223