A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

Fan ZhangPeng LiuJiaxiang LiZhidong CenWei Luo

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)

Our report broadens the genetic and phenotypic spectrum of ATP13A2-related HSP. Further research is needed to fully elucidate the mechanism linking ATP13A2 variants to HSP.

Keyphrases

heat shock protein
heat shock
heat stress
copy number
genome wide
cerebral palsy
dna methylation
upper limb
botulinum toxin
drug induced