Research Highlights

SPG33 HSP mutation affects protrudin

Posted - June 2014 in Research Highlights

Protrudin important in cell structure and function

New Spastin mutation discovered

Posted - in Research Highlights

Found to affect a neighbouring gene

Discovery doubles number of HSP causes

Posted - February 2014 in Research Highlights

Genes never before linked with human disease found

Inheritance patterns in HSP easy to misinterpret

Posted - in Research Highlights

Implications for choice of genetic tests and screens

Why is most HSP adult-onset?

Posted - in Research Highlights

Current theories fall short

Gene protects against neurodegenerative diseases

Posted - in Research Highlights

May lead to a number of cures

Induced pluripotent HSP stem cell study

Posted - in Research Highlights

Human model for drug screening

REEP1 affects Lipid Droplet biology

Posted - in Research Highlights

May be critical for nerve cell function

One gene mutation, three diseases

Posted - in Research Highlights

ALS2 mutations cause ALS, PLS or HSP

HSP and Parkinson’s

Posted - in Research Highlights

Impaired dopamine transmission in common

Large electrophysiology study of HSP

Posted - November 2013 in Research Highlights

Abnormalities correlated with symptoms

Squid nerve cells give up secrets

Posted - in Research Highlights

Microtubule structure and function studied

Induced pluripotent stem cells to study HSP

Posted - in Research Highlights

Multiple valuable findings

High rate of HSP in Sardinia

Posted - in Research Highlights

Almost 3 times more prevalent

SPG 31 studied in mice

Posted - in Research Highlights

Impaired cell structure connected with symptoms

Spastin found to associate with lipid droplets

Posted - in Research Highlights

Further study may lead to therapies

Spastin role in central nervous system development

Posted - in Research Highlights

Important in the structure that houses the brainstem

Next Generation Sequencing diagnostics for HSPs

Posted - September 2013 in Research Highlights

Germany leading in HSP gene testing

HSP gene testing advance in China

Posted - in Research Highlights

Success in detecting point mutations

Next generation gene testing

Posted - in Research Highlights

Helps identify non-SPG4 HSP