We sequenced DCTN1 (p150^Glued) in patients with Parkinson's disease, Parkinson-plus syndromes and healthy controls.

We found a variant (DCTN1 p.K56R) in the CAP-Gly domain in two patients with clinical Progressive supranuclear palsy.

The variant alters the affinity of p150^Glued for microtubules and causes a more diffuse cytoplasmic protein distribution.

The observed clinical phenotype, in p.K56R carriers, expands the phenotypes associated with DCTN1 variants.