Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS

► Genetic variants in UBQLN1 are not associated with amyotrophic lateral sclerosis. ► Novel UBQLN1 mutation (E54D) in a patient with atypical motor neuron disease. ► Dysfunction in the UPS may contribute to the pathogenesis of BVVLS.