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Proposed pathogenesis of most neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), is complex and typically involves interactions between genetic and environmental factors.1,2 The contribution of genetics in neurodegenerative diseases varies from monogenic causes to more multifaceted susceptibility genetic factors. However, identification of even rare single gene causes in these conditions has been crucial to our evolving understanding of neurodegenerative cascades and may ultimately lead to the development of new therapeutic interventions.3
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