Gene not previously linked to disease
Research Highlights
Potential treatment for SPG2 type HSP
Good result from mice study
NIPA1 (SPG6) gene also associated with MND
Mutational repeats key factor
AAA syndrome presenting as complicated HSP
Genetic test to support clinical assessment
SPG11 unresponsive to l-dopa treatment
Damage may be more widespread than thought
HSP mechanism research accelerates
6 studies reviewed covering 5 HSP genes
New HSP genotypes and phenotypes
Research from Italy, UK, Portugal, USA, Japan, Israel, the Netherlands, Turkey, Saudi Arabia, South Korea
Value of stem cell models of HSP
Discovery of potential treatments
Review of status of HSP knowledge
Supports current direction towards clinical trials
Lysosome recycling problems in SPG11 HSP
More understanding of the pathway involved