Research Highlights

30-40% genetic diagnosis gap in HSPs

Posted - February 2019 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

Spinal cord changes in pure HSP

Posted - in Research Highlights

Matches with leg muscles affected

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

Overview of the HSPs

Posted - December 2018 in Research Highlights

Call for new classification

Complex new disease includes HSP

Posted - in Research Highlights

Gene not previously linked to disease

Potential treatment for SPG2 type HSP

Posted - in Research Highlights

Good result from mice study

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

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