Finding a cure for the rare but severe KIF1A Associated Neurological Disorder, what we (need to) know.

Abstract

In the last few years, neurological diseases have been among the leading causes of death worldwide. A severe but rare neurodegenerative disorder is KIF1A Associated Neurological Disorder (KAND). This disorder is only identified in a few hundred people worldwide, mainly because the symptoms and genetic mutation associated with this disease wildly vary between patients making it hard to diagnose. Symptoms of this disease include cognitive impairment, spastic paraplegia, and epilepsy, among many others. KAND is caused by a genetic mutation in the kinesin family member 1A (KIF1A) gene, which codes for a motor protein responsible for the active intracellular transport of synaptic vesicle precursors. Here, I review recent insights on KAND and the molecular mechanism behind different KIF1A variants.