Research Highlights
Different approach to genetic detection
Posted - June 2019 in Research Highlights
Success in 40% of cases
POLR3A gene related syndromes include HSP
Posted - in Research Highlights
Large Norwegian study confirms earlier research
New HSP genotypes and phenotypes
Posted - in Research Highlights
Research from Iran, USA, Italy, Germany, Spain, Bulgaria, Canada, Austria, Saudi Arabia, China, Ireland and Finland
30-40% genetic diagnosis gap in HSPs
Posted - in Research Highlights
Need to look elsewhere for full picture of HSP genetics
Neurons more complex than thought
Posted - in Research Highlights
Prompts new view of how they function
Conventional view of SPG4 cause challenged
Posted - in Research Highlights
Additional mechanism suggested
New genetic type of HSP discovered
Posted - in Research Highlights
Associated with joint deformities in the feet and hands
Damage in SPG4 extends to nerves of the feet
Posted - in Research Highlights
Measured by lack of sweating response
Spatial relationships different in SPG4 HSP brain
Posted - in Research Highlights
Size of difference related to clinical disability
New HSP genotypes and phenotypes
Posted - in Research Highlights
Research from China, Japan, Denmark, Czech Republic, Italy, Canada, Saudi Arabia, the UK and Portugal
Complex new disease includes HSP
Posted - in Research Highlights
Gene not previously linked to disease
NIPA1 (SPG6) gene also associated with MND
Posted - in Research Highlights
Mutational repeats key factor
AAA syndrome presenting as complicated HSP
Posted - in Research Highlights
Genetic test to support clinical assessment
SPG11 unresponsive to l-dopa treatment
Posted - in Research Highlights
Damage may be more widespread than thought
HSP mechanism research accelerates
Posted - in Research Highlights
6 studies reviewed covering 5 HSP genes
New HSP genotypes and phenotypes
Posted - in Research Highlights
Research from Italy, UK, Portugal, USA, Japan, Israel, the Netherlands, Turkey, Saudi Arabia, South Korea
