Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. - Park J; Tucci A; Cipriani V; Demidov G; Rocca C; Senderek J; Butryn M; Velic A; Lam T; Galanaki E; Cali E; Vestito L; et al. (Genetics in medicine : official journal of the American College of Medical Genetics, 2022)