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Open Access 01-12-2013 | Research

Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U

Authors: Edward B Lee, Jenny Russ, Hyunjoo Jung, Lauren B Elman, Lama M Chahine, Daniel Kremens, Bruce L Miller, H Branch Coslett, John Q Trojanowski, Vivianna M Van Deerlin, Leo F McCluskey

Published in: Acta Neuropathologica Communications | Issue 1/2013

Abstract

Background

Multiple neurodegenerative diseases are characterized by the abnormal accumulation of FUS protein including various subtypes of frontotemporal lobar degeneration with FUS inclusions (FTLD-FUS). These subtypes include atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U), basophilic inclusion body disease (BIBD) and neuronal intermediate filament inclusion disease (NIFID). Despite considerable overlap, certain pathologic features including differences in inclusion morphology, the subcellular localization of inclusions, and the relative paucity of subcortical FUS pathology in aFTLD-U indicate that these three entities represent related but distinct diseases. In this study, we report the clinical and pathologic features of three cases of aFTLD-U and two cases of late-onset BIBD with an emphasis on the anatomic distribution of FUS inclusions.

Results

The aFTLD-U cases demonstrated FUS inclusions in cerebral cortex, subcortical grey matter and brainstem with a predilection for anterior forebrain and rostral brainstem. In contrast, the distribution of FUS pathology in late-onset BIBD cases demonstrated a predilection for pyramidal and extrapyramidal motor regions with relative sparing of cerebral cortex and limbic regions.

Conclusions

The topography of FUS pathology in these cases demonstrate the diversity of sporadic FUS inclusion body diseases and raises the possibility that late-onset motor neuron disease with BIBD neuropathology may exhibit unique clinical and pathologic features.

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Title: Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U
Authors: Edward B Lee
Jenny Russ
Hyunjoo Jung
Lauren B Elman
Lama M Chahine
Daniel Kremens
Bruce L Miller
H Branch Coslett
John Q Trojanowski
Vivianna M Van Deerlin
Leo F McCluskey
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Acta Neuropathologica Communications / Issue 1/2013
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/2051-5960-1-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U

Abstract

Background

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Results

Conclusions

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