Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy

Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy

•Non-5q SMA represents an expanding group of neurogenetic diseases.•TBK1 is associated with Frontotemporal dementia and Amyotrophic Lateral Sclerosis.•We describe a new adult-onset non-5q SMA associated with TBK1 gene.•Proximal motor weakness is a cardinal feature, despite the presence of pes cavus....

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Bibliographic Details
Published in:Revue neurologique Vol. 178; no. 9; pp. 988 - 990
Main Authors: Pinto, W.B.V.R., Souza, P.V.S., Farias, I.B., Badia, B.M.L., Chieia, M.A.T., Oliveira, A.S.B.
Format: Journal Article
Language:English
Published: Elsevier Masson SAS 01-11-2022
Online Access:Get full text
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Summary:•Non-5q SMA represents an expanding group of neurogenetic diseases.•TBK1 is associated with Frontotemporal dementia and Amyotrophic Lateral Sclerosis.•We describe a new adult-onset non-5q SMA associated with TBK1 gene.•Proximal motor weakness is a cardinal feature, despite the presence of pes cavus.•We provide a new muscle MR imaging pattern in this case.
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:0035-3787
DOI:10.1016/j.neurol.2022.05.010