A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred