Evolving 10-year epidemiological landscape of amyotrophic lateral sclerosis (ALS) in Ceará, Brazil

Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that affects upper and lower motor neurons with variable cognitive impairment. Despite its rarity, ALS has a major social and economic impact and increasing incidence worldwide. There are few population-based studies of ALS in Brazil. Methods: We present a descriptive and quantitative study, with a retrospective and prospective design, of patients with ALS followed at the Walter Cantídio University Hospital (HUWC) from January 2013 to December 2023, with the aim of describing the clinical, epidemiological, and genetic aspects of ALS in this population, as well as the ALS epidemiology within the state of Ceará, Brazil. Results: Two hundred and forty patients had their medical records analyzed. One hundred and thirty-four (55.8%) cases were male, with a male to female ratio of 1.3:1. The mean age of symptom onset was 56.39 ± 13.05 years. 92.1% (221) of cases were sporadic, 7.9% (19) were familial. Spinal onset was most common (72.1%). Genetic mutations were found in 10 patients, with SOD1 mutations (variant: c.358G > C; p.Val120Leu) being the most common. Using riluzole prescription data, the prevalence and incidence of ALS in 2022 were estimated at 2.32 and 0.8/100.000/inhabitants, respectively. Conclusion: The epidemiology of ALS in the state of Ceará is similar to what has been reported in prior studies from Brazil and other developing countries; SOD1 mutations were the most prevalent genetic subtype.