Journal article

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T Ahrendsen, Matthew P Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K Chung

HGG Adv | Elsevier BV | Published : 2021


KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A,a gene that encodes an anterograde neuronal microtubule (MT) motor protein. Here we characterize the natural history of KAND in 117 individuals using a combination of caregiver or self-reported medical history, a standardized measure of adaptive behavior, clinical records, and neuropathology. We developed a heuristic severity score using a weighted sum of common symptoms to assess disease severity. Focusing on 100 individuals, we compared the average clinical severity score for each variant with in silico predictions of deleteriousness and location in the protein..

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Awarded by NINDS NIH HHS

Awarded by NCATS NIH HHS