Every family should have access to critical scientific data about KIF1A. Here you can download available past publications free of charge. Be sure to check out more recent research as well. The following publications reflect studies completed before 2019. Check out our Research Simplified articles to see summaries of significant research, written by researchers for KIF1A families.

We keep this page updated with relevant scientific publications specific to KIF1A, but don’t stop here. Every caregiver has the right to learn about their loved one’s disease. We’re all citizen-scientists and your ideas matter. If you are a caregiver and payment is an obstacle in reading scientific papers, visit Sci-Hub for free access to research papers.

Studies Completed in 2018

PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex (Samanta, et al)

Studies Completed in 2017

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene (Cheon, et al)

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia (Iqbal, et al)

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. (Krenn, et al)

The KIF1A homolog Unc-104 is important for spontaneous release, postsynaptic density maturation and perisynaptic scaffold organization (Zhang, et al)

Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. (Hasegawa, et al)

Studies Completed in 2016

KIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration (Carabalona, et al)

The Molecular Motor KIF1A Transports the TrkA Neurotrophin Receptor and Is Essential for Sensory Neuron Survival and Function (Tanaka, et al)

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement (Hotchkiss, et al)

Studies Completed in 2015

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy (Nieh, et al)

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome (Langlois, et al)

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis (Citterio, et al)

Studies Completed in 2011-2014

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy (Lee, et al)

Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment (Kondo, et al)

Kinesin-3 Mediates Axonal Sorting and Directional Transport of Alphaherpesvirus Particles in Neurons (Kramer, et al)

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability (Hamdan, et al)

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. (Erlich, et al)