Avaliação longitudinal de pacientes com Esclerose Lateral Amiotrófica tipo 8: estudo cognitivo e comportamental

Abstract

Introduction: The most frequent classification of Amyotrophic Lateral Sclerosis (ALS), the sporadic form (sALS), has been widely studied in recent years, but there is still a lack of knowledge about the genetic variants. ALS type 8 (ALS8) is a genetic form with peculiar and relevant characteristics to be elucidated. Objective: To compare the performance in cognitive tests of patients with ALS8, sALS, and healthy controls; and to assess the progression of cognitive and behavioral performance of patients with ALS8 over time. Methods: The sample of the first study (cross-sectional) consisted of 29 patients with ALS8 (17 men; median age = 49 years), 20 patients with sALS (12 men; median age = 55 years) and 30 healthy controls (16 men; median age = 50 years). Participants were matched by age, sex and education. The second study (longitudinal) consisted of 23 patients with ALS8 (12 men; median age = 53 years). Patients underwent a neuropsychological assessment focusing on executive functions, besides behavioral and functional scales. Results: The comparison of patients with ALS8, sALS and the control group demonstrated changes in executive functions of both clinical groups compared to controls. Unlike patients with sALS, patients with ALS8 performed similarly to the control group on verbal fluency tasks. Symptoms of apathy were manifested in at least 28% in both groups of patients. In comparison with a follow-up of 24 to 48 months in patients with ALS8, despite the functional decline, there were no significant changes in the majority of cognitive tests and few behavioral variations. Conclusion: Patients with ALS8 presented cognitive changes similar to patients with sALS, but with less prominent deficits. Finally, longitudinal results indicated few changes in the cognitive and behavioral performance of patients with ALS8 over time.