Amyotrophic Lateral Sclerosis: An Update for 2018.

Area of Science:

• Neurology
• Genetics
• Cell Biology

Background:

• Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons, characterized by progressive weakness and leading to ventilatory failure.
• The exact pathogenesis of ALS remains unclear, though disruptions in RNA processing and protein clearance are implicated.
• Genetic factors, particularly repeat expansions in the C9orf72 gene, are the most common known cause of ALS.

Purpose of the Study:

• To review current understanding of ALS pathogenesis, diagnosis, and management.
• To highlight emerging therapeutic strategies, including stem cell and gene therapies.

Main Methods:

• Literature review of ALS pathogenesis, clinical presentation, and diagnostic approaches.
• Summary of current FDA-approved treatments and their efficacy.
• Overview of ongoing clinical trials for novel ALS therapies.

Main Results:

• ALS diagnosis relies on clinical symptoms and electrodiagnostic/genetic tests, with no definitive diagnostic test currently available.
• Riluzole and edaravone are FDA-approved ALS treatments offering modest benefits.
• Stem cell and antisense oligonucleotide gene therapies are promising areas of investigation for ALS treatment.

Conclusions:

• ALS is a devastating disease with limited treatment options, necessitating further research into effective therapies.
• Genetic factors play a significant role in ALS etiology.
• Novel therapeutic strategies like gene therapy hold potential for improving outcomes in ALS patients.