TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.
Tomoyasu Matsubara1,2, Naoki Kihara1, Satoko Miyatake3,4,5
1Department of Neurology, Tokushima University Hospital, Tokushima, Japan.
Annals of Clinical and Translational Neurology
|February 5, 2026
Summary
A novel TBK1 gene variant caused primary lateral sclerosis and frontotemporal dementia in a patient. This highlights TBK1
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
- Molecular Neurology
Background:
- Primary lateral sclerosis (PLS) and frontotemporal dementia (FTD) are distinct neurodegenerative disorders.
- TDP-43 proteinopathy is implicated in both PLS and some FTD subtypes.
- Genetic factors influencing TBK1 have been linked to neurodegeneration.
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