Category: Research Highlights

SPG8 mutations found in six families on three continents

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

Vinblastine significantly counteracts

Degree of shrinkage varies with type of HSP

Higher frequency of SPG4 and 7 new mutations identified