Potential relevance for HSP, PLS, MND
Research Highlights
Brain damage ‘a conspicuous feature’ of HSP
Different damage patterns depending on type
Identifying common impaired cell functions in HSP
Future drug treatments for multiple types
Common mechanisms in HSP & other conditions
Understanding key to finding cures
Major advance in gene therapy
Potential for editing genes directly
Improving Diagnosis, biomarkers & drug discovery
Cell morphology & machine learning
Mitochondria affected in SPG11
Altered structure, function & transport found
Challenges in genetic diagnosis of HSP
Improved genetic testing strategies the key
Huge collaboration and “big” data
Combining to solve rare diseases
Potential diagnostic HSP biomarker
Differences with gender and age identified