Amyotrophic lateral sclerosis: the complex path to precision medicine.

Area of Science:

• Neuroscience
• Genetics
• Pathology

Background:

• Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting voluntary movement.
• ALS and frontotemporal dementia (FTD) share clinical, genetic, and pathological links, classified as TDP-43 proteinopathies.
• Mutations in identified genes suggest ALS involves RNA processing, protein homeostasis, and axonal transport disruptions.

Purpose of the Study:

• To explore the convergence of distinct pathways in ALS pathophysiology.
• To highlight the role of genetic discoveries and technological advancements in understanding ALS.
• To discuss the potential for precision medicine and disease prevention in ALS.

Main Methods:

• Review of genetic findings in ALS.
• Analysis of pathological overlaps between ALS and FTD.
• Examination of advances in biotechnology and biomarker research.

Main Results:

• Genetic mutations implicate RNA processing, protein homeostasis, and axonal transport in ALS.
• TDP-43 proteinopathies link ALS and FTD.
• Biomarker research and genetic insights are foundational for precision medicine.

Conclusions:

• Despite gaps in understanding ALS pathophysiology, genetic and biomarker research pave the way for precision medicine and potential prevention.
• Multidisciplinary care is crucial for ALS management and is increasingly evidence-based.