New mutation in SPG7 implicated
Research Highlights
Test for potential biomarker established
Relevance for HSP clinical trials
New HSP genotypes & phenotypes
Research from China, Japan, Russia, USA, Turkey, Italy, Germany and Taiwan
Reduced axon transport in SPG4 degeneration
Consequence of higher sensitivity to oxidative stress
Importance of lipid droplet metabolism in HSP
Fundamental processes and potential drug targets
Mechanism of AP-4 related HSPs clarified
Applies to HSP types 47, 50, 51 and 52
SPG52 found in people with cerebral palsy
Three new mutations identified
2 cases of SPG9 related to pregnancy
Amino acid deficiency found
SPG11 mechanism examined in depth
Initial impact is early in neurodevelopment
New HSP genotypes and phenotypes
Research from Poland, Sudan, Spain, Iran, Korea, China, Czech Republic, Taiwan, Turkey, Mexico and Italy