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01-10-2009 | Case Report

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

Authors: Danielle Seilhean, Cécile Cazeneuve, Valérie Thuriès, Odile Russaouen, Stéphanie Millecamps, François Salachas, Vincent Meininger, Eric LeGuern, Charles Duyckaerts

Published in: Acta Neuropathologica | Issue 4/2009

Abstract

A K17I mutation in the ANG gene encoding angiogenin has been identified in a case that we previously published as ALS with neuronal intranuclear protein inclusions (Seilhean et al. in Acta Neuropathol 108:81–87, 2004). These inclusions were immunoreactive for smooth muscle α-actin but not for angiogenin. Moreover, they were not labeled by anti-TDP-43 antibodies, while numerous cytoplasmic inclusions immunoreactive for ubiquitin, p62 and TDP-43 were detected in both oligodendrocytes and neurons in various regions of the central nervous system. In addition, expression of smooth muscle α-actin was increased in the liver where severe steatosis was observed. This is the first neuropathological description of a case with an ANG mutation. Angiogenin is known to interact with actin. Like other proteins involved in ALS pathogenesis, such as senataxin, TDP-43 and FUS/TLS, it plays a role in RNA maturation.

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Title: Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
Authors: Danielle Seilhean
Cécile Cazeneuve
Valérie Thuriès
Odile Russaouen
Stéphanie Millecamps
François Salachas
Vincent Meininger
Eric LeGuern
Charles Duyckaerts
Publication date: 01-10-2009
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 4/2009
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-009-0545-9

At a glance: The STEP trials

Springer Medicine

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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