| Sumario: | The DCTN1 gene encodes the core subunit of the dynactin complex, which plays a pivotal role in retrograde axonal transport within neurons. Variants in this gene are not only responsible for Perry disease and distal hereditary motor neuropathy (dHMN), but also encompass a broad phenotypic spectrum including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP), highlighting its significant clinical heterogeneity. This review summarizes the clinical phenotypic spectrum, pathogenic molecular mechanisms, and advances in diagnosis and treatment of neurodegenerative disorders associated with DCTN1 variants, with the aim of providing a reference for precision diagnosis and management of these disorders.
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