47 new HSP variants identified
Research Highlights
New HSP genotypes and phenotypes
Research from China, Spain, USA, Canada, Czech Republic, Russia, Norway, South Korea, Slovenia
Impaired mitochondria cause SPGs 11 & 48
Specific impairments identified
New crossbred SPG4 mouse holds great promise
Aim to use for testing SPG4 therapies
Special imaging yields SPG4 insights
Axonal damage measured
Shortening the “diagnostic odyssey”
Whole genome sequencing the key
HSPs studied in children
20 new genetic variants discovered
Regulation of Spastin stability
Important for microtubules and nerve growth
New HSP genotypes and phenotypes
Research from Belgium, France, USA, Germany, Turkey, Serbia, Spain, Italy, China, Poland, Netherlands, Japan, Cyprus, Finland, Austria, Lebanon, Chile, Morocco
Axonal damage in SPG4 studied
Imaging shows impairment related to severity