Case report
Open access
Sep 2026
Case Report: Neonatal-onset parkinsonian-pyramidal syndrome caused by novel compound heterozygous FBXO7 variants
Background Early-onset parkinsonism is often associated with genetic factors. Pathogenic variants in the FBXO7 gene are a rare cause of early-onset parkinsonism, typically presenting as parkinsonian-pyramidal syndrome (PPS), also known as Parkinson's disease-15 (PARK15). To date, only three cases of infantile-onset PAR...
Wei-Cong Pu, Ze-Lei Liu, Yan-Yan Cao et al.
· Frontiers in Pediatrics · 0 citations