Research Highlights

Advances in understanding of the HSPs

Posted - September 2019 in Research Highlights

Insight into impaired functions and underlying mechanisms

Three rapid tests of HSP features developed

Posted - in Research Highlights

Potential drug target for SPG4 identified

New explanation for SPG4 causal mechanism

Posted - in Research Highlights

Both too little & too much Spastin to blame

Mitochondrial dynamics and HSP axon defects

Posted - in Research Highlights

Corrected by having less of key protein DRP1

SPG35 HSP overlaps FAHN & leukodystrophy

Posted - in Research Highlights

Phenotype, disease course, clinical & imaging biomarkers

New, dominant form of HSP, SPG80, described

Posted - in Research Highlights

Found in 10 geographically diverse families worldwide

Atlastin’s role in SPG3A explored

Posted - in Research Highlights

Mechanism and dynamics of impairment described

New HSP genotypes and phenotypes

Posted - in Research Highlights

Research from the UK, China, Pakistan, Italy, Spain, France, Turkey, Austria, Canada, USA & Germany

Large study of SPG7 HSP

Posted - June 2019 in Research Highlights

Genotype-phenotype correlations described

SPG48 HSP studies in mice

Posted - in Research Highlights

Disease mechanism described

New brain imaging technology delivers

Posted - in Research Highlights

Brain Stem Atlas identifies SPG7 changes

SPG9 HSP linked with other conditions

Posted - in Research Highlights

Common mechanism discovered

Different approach to genetic detection

Posted - 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

Huge French study of SPG4 HSP

Posted - February 2019 in Research Highlights

New findings made

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