Research Highlights

AAA syndrome presenting as complicated HSP

Posted - December 2018 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

Value of stem cell models of HSP

Posted - September 2018 in Research Highlights

Discovery of potential treatments

Review of status of HSP knowledge

Posted - in Research Highlights

Supports current direction towards clinical trials

Lysosome recycling problems in SPG11 HSP

Posted - in Research Highlights

More understanding of the pathway involved

HSP types and patterns similar globally

Posted - in Research Highlights

Large study in China confirms previous findings

New findings on SPG54 HSP

Posted - in Research Highlights

Mitochondria now implicated

New HSP genotypes and phenotypes

Posted - in Research Highlights

Research from China, Japan, Germany, Turkey and Australia

Mitochondrial impairment studied in SPG15 & 48 HSP

Posted - June 2018 in Research Highlights

Function restored with treatment in lab experiments

SPG10 HSP gene now linked with Motor Neurone Disease

Posted - in Research Highlights

Previously linked to Charcot Marie Tooth

New HSP gene ACO2 discovered

Posted - in Research Highlights

Associated with recessive complicated HSP

Mechanism of AP-4 related HSPs investigated

Posted - in Research Highlights

AP-4 deficiency underlies four types of HSP

SPAST mutation affects adjacent gene

Posted - in Research Highlights

Combined effect causes complicated HSP

EPT1 mutation causes complicated HSP

Posted - in Research Highlights

Affects myelin sheath that covers nerves

Parkinsonism found in SPG7 HSP

Posted - in Research Highlights

Responsive to levodopa treatment

Ataxia-spasticity spectrum disorders

Posted - in Research Highlights

Limitations in classification and diagnosis

New HSP genotypes and phenotypes

Posted - in Research Highlights

Research from France, Canada, Turkey, Germany, Norway, Spain, Italy, South Korea, India and the USA

Biomarker discovery for SPG5 HSP

Posted - February 2018 in Research Highlights

Two cholesterol derivatives identified