Article
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3.
Journal of the neurological sciences - 15 Nov 2025
Orimo Kenta, Matsukawa Takashi, Shiomi Kazutaka, Goto Ryoji, Mitsutake Akihiko, Kuromi Yumiko, Matsuda Nozomu, Kanai Kazuaki, Kurokawa Ryo, Ishiura Hiroyuki, Mitsui Jun, Nomoto Junko, Tanaka Masaki, Omae Yosuke, Kawai Yosuke, Tokunaga Katsushi, Tsuji Shoji, Toda Tatsushi
Abstract excerpt
CST3 (NM_000099.4) encodes cystatin C, whose C-terminal truncating variants in this gene have recently been reported to cause adult-onset leukoencephalopathy, characterized by headaches, transient neurological symptoms, and distinct imaging findings. We present four patients from two Japanese families, including one with a novel variant (c.358-2_395del). Three patients from one family developed chronic headaches...
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