title: Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
abstract: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population.
  
  
  
  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 São Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses. SOD1, FUS and VAPB were also evaluated in FALS subjects.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Gerson
authors.initials: G
authors.lastname: Chadi
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Jessica Ruivo
authors.initials: JR
authors.lastname: Maximino
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Frederico Mennucci de Haidar
authors.initials: FMH
authors.lastname: Jorge
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Fabrício Castro de
authors.initials: FC
authors.lastname: Borba
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Joyce Meire
authors.initials: JM
authors.lastname: Gilio
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Dagoberto
authors.initials: D
authors.lastname: Callegaro
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Camila Galvão
authors.initials: CG
authors.lastname: Lopes
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Samantha Nakamura Dos
authors.initials: SND
authors.lastname: Santos
authors.affiliation: a Neuroregeneration Center, Department of Neurology , University of São Paulo School of Medicine , São Paulo , Brazil.
authors.forename: Gabriela Natania Sales
authors.initials: GNS
authors.lastname: Rebelo
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001938:Brazil; D000073885:C9orf72 Protein / Q000235:genetics; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D000072105:Superoxide Dismutase-1 / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; C000606290:SOD1 protein, human; C000598624:TARDBP protein, human; C496748:VAPB protein, human; D033921:Vesicular Transport Proteins; D000072105:Superoxide Dismutase-1
keywords: ALS gene sequencing; C9orf72; SOD1; TARDPB; VAPB