Parkinsonism and a potential eye movement biomarker
Research Highlights
SPG30 mechanism clarified
Increased, not decreased, activity found
SPG2 has a hugely variable presentation
“Neighbour” genes involved in complex, early-onset forms
SPG13 mechanism described
Same gene & mechanism causes another disorder
New HSP genotypes and phenotypes
Research from The Netherlands, Sweden, Russia, USA, Italy, Brazil, UK, Japan, France, Switzerland, Germany, Tunisia, Iran, China, Turkey
Advances in understanding of the HSPs
Insight into impaired functions and underlying mechanisms
Three rapid tests of HSP features developed
Potential drug target for SPG4 identified
New explanation for SPG4 causal mechanism
Both too little & too much Spastin to blame
Mitochondrial dynamics and HSP axon defects
Corrected by having less of key protein DRP1
SPG35 HSP overlaps FAHN & leukodystrophy
Phenotype, disease course, clinical & imaging biomarkers