SPG8 mutations found in six families on three continents
Research Highlights
Childhood-onset spastic paraplegia
Mutation of the NIPA1 gene discovered
Standard gene tests miss some HSP
HSP not picked up when caused by deletions
HSP with no family history
Gene testing should be done
Rare cause of HSP
SPG7 mutations account for less than 5%
KIF5A gene and late-onset ADHSP
Testing recommended where spastin and atlastin negative
Early-onset HSP gene identified
SPG3A is the most frequent cause
Drug lessens HSP in fruit flies
Vinblastine significantly counteracts
Spinal cord shrinkage with HSP
Degree of shrinkage varies with type of HSP
HSP in Korean patients
Higher frequency of SPG4 and 7 new mutations identified