Frontotemporal Lobar Degeneration Case with an N-Terminal <i>TUBA4A</i> Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Frontotemporal Lobar Degeneration Case with an N-Terminal <i>TUBA4A</i> Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Recently, disease-associated variants of the <i>TUBA4A</i> 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...

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Bibliographic Details
Main Authors: Evelien Van Schoor, Mathieu Vandenbulcke, Valérie Bercier, Rik Vandenberghe, Julie van der Zee, Christine Van Broeckhoven, Markus Otto, Bernard Hanseeuw, Philip Van Damme, Ludo Van Den Bosch, Dietmar Rudolf Thal
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Biomolecules
Subjects:
frontotemporal dementia
TUBA4A
transactive response DNA-binding protein 43 kD
Online Access:https://www.mdpi.com/2218-273X/12/3/440

Internet

https://www.mdpi.com/2218-273X/12/3/440

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