Limitations in classification and diagnosis
Research Highlights
New HSP genotypes and phenotypes
Research from France, Canada, Turkey, Germany, Norway, Spain, Italy, South Korea, India and the USA
Biomarker discovery for SPG5 HSP
Two cholesterol derivatives identified
DDHD1 and DDHD2 HSP genes investigated
Lipid metabolism dysfunction the common cause
Adaptor Protein (AP) genes linked with 5 types of HSP
Mechanisms & processes described in 3 research studies
Rare form of SPG4 HSP misdiagnosed
Early-onset symptoms “misleading”
New HSP mutation found in FA2H gene
Early-onset and rapid progression SPG35 HSP
Promising treatment found for SPG5 HSP
Atorvastatin reduces toxic fatty compounds in the brain
Next Generation gene testing telling a story
Much of HSP genetics still not understood
HSP differences in identical twins
More than genetic inheritance at play