Article
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2024
Naruse Hiroya, Iseki Chifumi, Mitsui Jun, Miki Jun, Nagasawa Hikaru, Kurokawa Katsuro, Kobayashi Ryota, Sato Hiroyasu, Goto Jun, Satake Wataru, Ishiura Hiroyuki, Tsuji Shoji, Ohta Yasuyuki, Toda Tatsushi
Abstract excerpt
Loss-of-function (LoF) variants in the TANK binding kinase 1 (TBK1) gene are implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In this study, we present the first familial cases of ALS and parkinsonism associated with a novel TBK1 variant. We describe two siblings: one diagnosed with classical ALS and the other with a unique syndrome overlapping ALS and...
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