• The first individual with a known KIF1A variant was identified in 2011 Since then, 16 papers have been published describing clinical findings for 66 individuals.

Mutations in KIF1A cause the following disorders:

• Cognitive impairment
• Cerebellar atrophy
• Ataxia
• Spastic paraplegia
• Optic nerve atrophy
• Peripheral neuropathy

• Epilepsy​​

​​​​KIF1A - Related Disorder is a rare disease caused by a mutation in the KIF1A gene.