NESCAV syndrome (NESCAVS) is a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. It has been reported that de novo mutations in KIF1A cause this syndrome. KIF1A encodes a neuron specific family 1 kinesin protein, which is involved in axonal transport of synaptic vesicles.
