Research Highlights - HSP Research Foundation

Childhood-onset spastic paraplegia

Posted - March 2007 in Research Highlights

Mutation of the NIPA1 gene discovered

HSP not picked up when caused by deletions

Gene testing should be done

SPG7 mutations account for less than 5%

Testing recommended where spastin and atlastin negative

SPG3A is the most frequent cause

Posted - March 2007 in Research Highlights

Vinblastine significantly counteracts

Degree of shrinkage varies with type of HSP

Higher frequency of SPG4 and 7 new mutations identified

Drugs that stabilize microtubule activity

Direct foetal gene analysis successful

Proportion of carriers without symptoms while others unaware of them