Article
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.
Nature medicine - 1 Oct 2024
Ziegler Alban, Carroll Joanne, Bain Jennifer M, Sands Tristan T, Fee Robert J, Uher David, Kanner Cara H, Montes Jacqueline, Glass Sarah, Douville Julie, Mignon Laurence, Gleeson Joseph G, Crooke Stanley T, Chung Wendy K
Abstract excerpt
KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal ultrarare disease with a wide phenotypic spectrum associated with largely heterozygous de novo missense variants in KIF1A. Antisense oligonucleotide treatments represent a promising approach for personalized treatments in ultrarare diseases. Here we report the case of one patient with a severe form of KAND characterized by...
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