Article
Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology.
Biomolecules - 12 Mar 2022
Van Schoor Evelien, Vandenbulcke Mathieu, Bercier Valérie, Vandenberghe Rik, van der Zee Julie, Van Broeckhoven Christine, Otto Markus, Hanseeuw Bernard, Van Damme Philip, Van Den Bosch Ludo, Thal Dietmar Rudolf
Abstract excerpt
Recently, disease-associated variants of the TUBA4A gene were identified in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here, we present the neuropathological report of a patient with the semantic variant of primary progressive aphasia with a family history of Parkinsonism, harboring a novel frameshift mutation c.187del (p.Arg64Glyfs*90) in TUBA4A. Immunohistochemistry...
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