Abstract
The DCTN1 (dynactin 1) gene encodes for the major subunit of the dynactin protein complex which plays a crucial role in axon maintenance and organelles and vesicle transport regulation. Variants in this gene have been associated with various neurodegenerative disorders, most notably Perry syndrome, but also other types of parkinsonism, FTD, ALS and inherited neuropathies. In this work, we screened for DCTN1 variants a population of 607 patients referred to two centers of the Emilia Romagna region (Italy) affected by various type of neurodegenerative disorders, to define prevalence and clinical features associated with these variants.
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