Keep your eyes peeled for VPS16

Monoallelic and biallelic pathogenic variants in the VPS16 gene (vacuolar protein sorting 16 homolog) are responsible for VPS16-related early-onset dystonia (DYT-VPS16) (OMIM ID: 619291) [1,2]. More severe dystonic phenotype were related to homozygous mutations [3]. Most patients with monoallelic variants have dystonia starting in childhood or young adulthood (mean age 14 years old, range 3 –50) with focal (cervical, upper limb, oromandibular), or generalized dystonia sometimes with a myoclonic component [1,2,4].

Source: Parkinsonism and Related Disorders - January 10, 2024 Category: Neurology Authors: Cl ément Desjardins, Cécile Delorme, Aurélie Méneret, Emmanuel Roze, Bertrand Gaymard, Marie Vidailhet Tags: Correspondence Source Type: research