Esclerose lateral amiotrófica (ela) e as estratégias moleculares de diagnóstico: uma revisão integrativa de literatura

Abstract

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. Early diagnosis is vital; however, its genetic complexity and variable symptoms pose challenges for effective diagnosis and treatment. Objective: This study aims to identify barriers to early diagnosis and treatment of ALS, seeking strategies to overcome them. Methodology: A systematic literature review was conducted, covering the NCBI, Scielo, and PubMed databases. Full papers published between 2014 and 2024, in Portuguese or English, relevant to the topic were included. The review aimed to identify key genes in ALS and evaluate the role of molecular diagnosis in early detection. Results: The results reveal intriguing genetic complexity in ALS, associated with various genetic variants. This suggests the need for personalized therapeutic approaches targeting specific genes. The ongoing identification of new genes linked to ALS provides opportunities for more effective and targeted treatments. Discussions: These findings underscore the importance of a thorough analysis of the interaction between genetic factors and disease manifestation. They reflect the need for advances in ALS research and treatment. Conclusion: ALS is a complex condition, but advances in understanding its genetic basis hold promise for more effective and personalized therapies, driving an integrated approach between basic and clinical research to improve patients' lives.