Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

Kinesinsare a family of proteins for anterograde transport of the molecules from the neuronal cell bodyand their impairment has been widely associated with neurodegenerationof the motor neurons. KIF5A gene causes autosomal dominant spastic paraplegia10, a neurological disordercharacterized by spasticityand weakness of the lower limbs (SPG10). We carried out a screening of KIF5A gene in 50 subjects affected by HSP negative to diagnostic testfor SPG4, ATL1 and REEP1. We identified a novel variation p.Ile255Met in a 58-year-old man who developed progressive gait disturbance due to spasticparaparesis complicated by axonal neuropathy.