Familial Occurrence of Motor Neuron Disease: Genetic and Clinical Analysis

Motor neuron disease (MND), particularly Amyotrophic Lateral Sclerosis (ALS), is a severe neurodegenerative disorder characterized by the progressive degeneration of central and peripheral motor neurons. Although most cases occur in a sporadic form, familial occurrence is identified in approximately 10–20% of patients. Modern molecular genetic studies indicate that familial forms of MND can be inherited through autosomal dominant, autosomal recessive, and X-linked patterns. In particular, pathogenic variants in genes such as C9ORF72, SOD1, FUS, and TARDBP account for more than half of familial ALS cases.

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