Mutations in the DCTN1 gene have been associated with several neurodegenerative diseases, including Amyotrophic Lateral Sclerosis (ALS) and Perry Syndrome. These mutations can disrupt the normal function of dynactin 1, leading to defective cellular transport and contributing to the pathogenesis of these disorders. Histological analysis of affected tissues often reveals abnormal accumulations of organelles and disrupted cellular architecture.
