Mutational analysis of SPAST in spastic paraplegia 4

Takeaway

  • In a study of individuals with hereditary spastic paraplegia (HSP), novel mutations were identified in the SPAST gene (associated with spastic paraplegia 4 [SPG4]), of which most impacted microtubule severing activity or gene splicing.

Why this matters

    This study expands the mutational spectrum of SPG4, which will help with diagnosis of this disease.