Research Highlights

Special imaging shows differences due to HSP

Posted - December 2019 in Research Highlights

Potential as a biomarker of progression

New HSP gene PCYT2

Posted - in Research Highlights

Associated with recessive, complicated HSP

Suspected new HSP gene SPTAN1

Posted - in Research Highlights

Huge HSP genetics study in Canada

Two studies of SPG7

Posted - in Research Highlights

Parkinsonism and a potential eye movement biomarker

SPG30 mechanism clarified

Posted - in Research Highlights

Increased, not decreased, activity found

SPG2 has a hugely variable presentation

Posted - in Research Highlights

“Neighbour” genes involved in complex, early-onset forms

SPG13 mechanism described

Posted - in Research Highlights

Same gene & mechanism causes another disorder

New HSP genotypes and phenotypes

Posted - in Research Highlights

Research from The Netherlands, Sweden, Russia, USA, Italy, Brazil, UK, Japan, France, Switzerland, Germany, Tunisia, Iran, China, Turkey

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