We firmly believe every family should have access to critical scientific data about KIF1A. To take a more active role in advancing KIF1A research, we encourage all KAND families to participate in the ongoing Natural History Study, which records and compares known cases of KIF1A Associated Neurological Disorder (KAND). This study is vital to understanding KAND and swiftly developing strategies for treatment.

RECENT RESEARCH STUDIES

The following publications reflect key KIF1A-related studies that are ongoing or completed after 2017. Check out our Research Simplified articles to see summaries of significant research, written by researchers for KIF1A families. For additional KIF1A papers, visit the Completed Studies page or view KIF1A research in PubMed.gov.

Disease severity in KIF1A Associated Neurological Disorders (KAND) is correlated with variant location (2019)

In this second natural history study publication from Chung Lab, researchers present a disease severity score for KIF1A Associated Neurological Disorder (KAND) based on medical history and clinical data of 168 KAND patients. This study adds to our understanding of the phenotypic spectrum of KAND and identifies regions of the KIF1A gene that are associated with higher severity scores.

Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors (2019)

In this collaborative study involving researchers at Tohoku University in Japan and the University of California, Davis, we learn that in a subset of KIF1A mutations, “hyperactivation of kinesin motor activity, rather than its loss of function, is a cause of motor neuron disease in humans.”

Kinesin-3 responds to local microtubule dynamics to target synaptic cargo delivery to the presynapse (2019)

Led by researchers at Holzbaur Lab at the University of Pennsylvania, this paper explores how KIF1A carries on its important function of transporting synaptic vesicles to the synapse and how specific disease-causing mutations on KIF1A affect its molecular behavior and lead to disease.

PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex (2018)

This study by researchers at University of Arkansas explores the decreased activity of a specific chain of enzymes within a variant of KIF1A mutations. It describes the variant in detail and found that the results of the mitochondrial enzymes should be interpreted with caution and that clinicians should be actively looking for other underlying diagnoses with further comprehensive studies.

Regulation of KIF1A motility via polyglutamylation of tubulin C-terminal tails (2018)

With the goal of learning more about the function of the KIF1A gene, this study identified a unique pausing behavior within the microtubule that aids in the KIF1A protein’s ability to transport cargo for long distances within the neuron and without which the protein is ineffective. The research study was conducted by Dominique V. Lessard, et al.

Expanding the natural history of KIF1A associated neurological disorders (KAND) (2017)

This study, by Lia Boyle and Wendy Chung, found that variants in KIF1A gene mutations can take on a variety of forms based on phenotype and mode of inheritance. This study uses data from the natural history study to detail a spectrum of symptoms and severity across KAND currently associated with multiple genetic variants. The findings have expanded the phenotypic spectrum of KAND.

RESEARCH SIMPLIFIED

Through our Research Simplified category on the blog, scientists are given the opportunity to explain their publications to the KIF1A.ORG community. If the abstracts and full research publications leave you scratching your head, these simple overviews of research studies and their findings are a great place to start on your journey to learning more about KIF1A and KAND.