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Acta Neuropathol Commun. 2013 May 9;1(9):1-11.

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

Author information

1
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA ; Translational Neuropathology Research Laboratory, 605B Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA 19104, USA ; Department of Pathology and Laboratory Medicine, Philadelphia, PA, USA.

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.

KEYWORDS:

Amyotrophic lateral sclerosis; Frontotemporal dementia; Frontotemporal lobar degeneration; Motor neuron disease

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