What is KIF1A Associated Neurological Disorder?

KIF1A Associated Neurological Disorder (KAND) is a severe and rare neurodegenerative disorder. It has a progressive course, meaning at some point people with this disease will start to decline. Every human has 20,000-25,000 genes. KAND is caused by a mutation in the KIF1A gene. There is a wide range of symptoms that appear at birth or in early childhood.

Mutations in KIF1A can cause: cognitive impairment; cerebellar atrophy, ataxia, spastic paraplegia, optic nerve atrophy, cortical vision impairment, peripheral neuropathy, and epilepsy. This disease does not affect any two people in the same way.

KIF1A.org is is studying this specific disease along with treatments, and even a cure. All proceeds from Cure for Emmery fundraisers go straight to KIF1A.org. As scientific advancements are made in gene editing, we are hopeful that there will be a cure very soon!