KIF5A is located on 12q13.3 and codes for KIF5A, a protein that forms a part of the kinesin-1 complex. Variants in KIF5A can cause various neurodegenerative disorders, depending on their location. KIF5A is expressed exclusively in neurons and pathogenic variants follow an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, is a neurodegenerative disorder clinically characterised by rapidly progressive muscle weakness and death due to respiratory failure, with the median age of disease onset being 46.5 years. Hereditary Spastic Paraplegia(SPG10/HSP) has variable manifestations from patient to patient. Patients with 'pure' spastic paraplegia exhibit lower limb spasticity, distal sensory impairment, hyperreflexia and extensor plantar responses. Axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy manifests in some HSP patients, also a characteristic phenotype of Charcot-Marie-Tooth disease type 2.
KIF5A