Expanding The Genetic Spectrum of ALS: A Case Series of Rare Variants

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron loss. While most cases are sporadic, a subset is linked to genetic mutations. Rare genetic variants remain underexplored, yet they may provide important insights into disease mechanisms and clinical heterogeneity. This case series expands the spectrum of genetic associations in ALS and emphasizes the importance of comprehensive genetic testing. Recognition of rare variants may refine diagnostic accuracy, inform prognosis, and guide future therapeutic strategies.