Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

Anne LegrandC PujolC M DurandA MesnilI RuberaC DurantonS ZuilyA B SousaM RenaudJ L BoucherN PietrancostaS AdhamC OrssaudC MarelliC CasaliL ZiccardiN VillainC EwenczykA DurrC MignotG StevaninC BillonM HureauxX JeunemaitreC GoizetJ Albuisson

Published in: Journal of internal medicine (2021)

CYP2U1 pathogenic variants are found in unsolved PXE patients with neurological findings, including spastic paraplegia, expanding the SPG56 phenotype and highlighting its overlap with PXE. The pathophysiology of ABCC6 and CYP2U1 should be explored to explain their respective role and potential interaction in ectopic mineralization.

Keyphrases

cerebral palsy
botulinum toxin
upper limb
copy number
human health
risk assessment
dna methylation
gene expression
subarachnoid hemorrhage