We firmly believe that every family should have access to critical scientific data about KIF1A. To take a more active role in advancing KIF1A research, please consider participating in the ongoing Natural History Study, which records and compares known cases of KIF1A Associated Neurological Disorder (KAND).

Recent Research Studies

The following publications reflect 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.

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

This study by Samantha D. and Gokden M. 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.

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

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.

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Regulation of KIF1A motility via polyglutamylation of tubulin C-terminal tails

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.

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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.

Check Out the Overviews