AI Article Synopsis
- This study aimed to examine gene mutations associated with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis (ALS) within a diverse population in Brazil.
- Researchers analyzed specific genes (C9orf72, TARDBP, SOD1, FUS, VAPB) in a sample of 39 FALS and 189 SALS patients, finding a significantly higher mutation rate in FALS patients (61.3%) compared to SALS patients (5.3%).
- Key findings included prevalent mutations in C9orf72, VAPB, and SOD1 among FALS patients, with some SALS patients also showing C9orf72 mutations, while no FUS mutations were detected in
Article Abstract
Objective: 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 São 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.
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| http://dx.doi.org/10.1080/21678421.2016.1254245 | DOI Listing |
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