Research Highlights

Recessive SPG35 HSP inherited from just one parent

Posted - September 2016 in Research Highlights

Major implications for genetic counselling

Large Czech study of SPAST HSP

Posted - in Research Highlights

327 HSPers from 263 families gene tested

FARS2 gene mutation described

Posted - in Research Highlights

Causes recessive but pure SPG77 HSP

HSPer also found to have MS

Posted - in Research Highlights

First description of dual occurrence

Pure HSP study of children in Greece

Posted - in Research Highlights

Clinical and genetic findings

New HSP genetic findings

Posted - in Research Highlights

From Iran, Germany, China, Greece, Japan, Pakistan and Hungary

SPAST (SPG4) HSP mechanism explained

Posted - June 2016 in Research Highlights

Potential drug treatment identified

Potential therapeutic avenues for HSP

Posted - in Research Highlights

Biomarkers investigated in animal models

Exome sequencing helps with HSP diagnosis

Posted - in Research Highlights

New gene-disease associations found

The science of patient input

Posted - in Research Highlights

Integrating patient needs and priorities

New Findings on SPG11 HSP mechanism

Posted - in Research Highlights

Potential treatment target identified

Late-onset spastic paraplegia type 10 (SPG10)

Posted - May 2016 in Research Highlights

First-time discovered in an Asian family

REEP1 (SPG31) found with recessive inheritance

Posted - in Research Highlights

Previously associated only with dominant form

New HSP genetic findings

Posted - in Research Highlights

From Japan, Poland, England, China, Hungary, Morocco, Canada, Italy and the USA

Developing a ‘natural history’ of HSP

Posted - February 2016 in Research Highlights

Large German study lays the foundation

Atlastin (SPG 3A) investigated

Posted - in Research Highlights

Questions raised about regulation and role

SPG 8 HSP loss-of-function theory questioned

Posted - in Research Highlights

Implications for alternative gain-of-function hypothesis

Brain shrinkage found in SPG 2 HSP

Posted - in Research Highlights

Changes also in the myelin sheath around axons

Mechanism of complicated SPG49 HSP studied

Posted - in Research Highlights

TECPR2 protein deficiency affects multiple cell functions

New HSP genetics findings

Posted - in Research Highlights

From Germany, Norway, Pakistan, China, Japan