Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

PSMF1 joins the Parkinson’s gene list: Magrinelli et al. (2026) linked biallelic variants to a spectrum from early-onset parkinsonism to perinatal lethality, with Genomize-SEQ analysing exomes for one contributing Turkish family.