A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report

Several variants of the TANK-Binding Kinase 1 (TBK1) gene have been associated with frontotemporal dementia - amyotrophic lateral sclerosis (FTD-ALS) spectrum diseases. Corticobasal syndrome (CBS) is characterized by asymmetric limb rigidity, dystonia or myoclonus, in association with speech or limb...

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Détails bibliographiques
Auteurs principaux: Kaitlin Seibert, Heather Smith, Allison Lapins, Peter Pytel, James A. Mastrianni
Format: Article
Langue:English
Publié: Frontiers Media S.A. 2022-03-01
Collection:Frontiers in Neurology
Sujets:
Accès en ligne:https://www.frontiersin.org/articles/10.3389/fneur.2022.826676/full