caa a22 4500 445377771 CHVBK 20180317143008.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s00702-011-0690-x doi (NATIONALLICENCE)springer-10.1007/s00702-011-0690-x Spatial patterns of FUS-immunoreactive neuronal cytoplasmic inclusions (NCI) in neuronal intermediate filament inclusion disease (NIFID) [Elektronische Daten] [Richard Armstrong, Marla Gearing, Eileen Bigio, Felix Cruz-Sanchez, Charles Duyckaerts, Ian Mackenzie, Robert Perry, Kari Skullerud, Hideaki Yokoo, Nigel Cairns] Neuronal intermediate filament inclusion disease (NIFID), a rare form of frontotemporal lobar degeneration (FTLD), is characterized neuropathologically by focal atrophy of the frontal and temporal lobes, neuronal loss, gliosis, and neuronal cytoplasmic inclusions (NCI) containing epitopes of ubiquitin and neuronal intermediate filament (IF) proteins. Recently, the ‘fused in sarcoma' (FUS) protein (encoded by the FUS gene) has been shown to be a component of the inclusions of NIFID. To further characterize FUS proteinopathy in NIFID, we studied the spatial patterns of the FUS-immunoreactive NCI in frontal and temporal cortex of 10 cases. In the cerebral cortex, sectors CA1/2 of the hippocampus, and the dentate gyrus (DG), the FUS-immunoreactive NCI were frequently clustered and the clusters were regularly distributed parallel to the tissue boundary. In a proportion of cortical gyri, cluster size of the NCI approximated to those of the columns of cells was associated with the cortico-cortical projections. There were no significant differences in the frequency of different types of spatial patterns with disease duration or disease stage. Clusters of NCI in the upper and lower cortex were significantly larger using FUS compared with phosphorylated, neurofilament heavy polypeptide (NEFH) or α-internexin (INA) immunohistochemistry (IHC). We concluded: (1) FUS-immunoreactive NCI exhibit similar spatial patterns to analogous inclusions in the tauopathies and synucleinopathies, (2) clusters of FUS-immunoreactive NCI are larger than those revealed by NEFH or ΙΝΑ, and (3) the spatial patterns of the FUS-immunoreactive NCI suggest the degeneration of the cortico-cortical projections in NIFID. Springer-Verlag, 2011 Neurofilament intermediate filament inclusion disease (NIFID) nationallicence ‘Fused in sarcoma' (FUS) nationallicence Neuronal cytoplasmic inclusions (NCI) nationallicence Spatial pattern nationallicence Cortico-cortical projections nationallicence Armstrong Richard Vision Sciences, Aston University, B4 7ET, Birmingham, UK aut Gearing Marla Department of Pathology and Laboratory Medicine and Centre for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA, USA aut Bigio Eileen Department of Pathology, Northwestern University Medical School, Chicago, IL, USA aut Cruz-Sanchez Felix Institute of Neurological and Gerontological Sciences, International University of Catalonia, Barcelona, Spain aut Duyckaerts Charles Laboratoire de Neuropathologie, Hôpital de la Salpêtrière, AP-HP, 75651, Paris, France aut Mackenzie Ian Department of Pathology and Laboratory Medicine, Vancouver General hospital, Vancouver, BC, Canada aut Perry Robert Department of Neuropathology, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, UK aut Skullerud Kari Department of Pathology, Rikshospitalet, N-0027, Oslo, Norway aut Yokoo Hideaki Department of Pathology, Gunma University School of Medicine, Maebashi, Japan aut Cairns Nigel Charles F. and Joanne Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St Louis, MO, USA aut Journal of Neural Transmission Springer Vienna 118/11(2011-11-01), 1651-1657 0300-9564 118:11<1651 2011 118 702 https://doi.org/10.1007/s00702-011-0690-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00702-011-0690-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Armstrong Richard Vision Sciences, Aston University, B4 7ET, Birmingham, UK aut NATIONALLICENCE 700 1- Gearing Marla Department of Pathology and Laboratory Medicine and Centre for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Bigio Eileen Department of Pathology, Northwestern University Medical School, Chicago, IL, USA aut NATIONALLICENCE 700 1- Cruz-Sanchez Felix Institute of Neurological and Gerontological Sciences, International University of Catalonia, Barcelona, Spain aut NATIONALLICENCE 700 1- Duyckaerts Charles Laboratoire de Neuropathologie, Hôpital de la Salpêtrière, AP-HP, 75651, Paris, France aut NATIONALLICENCE 700 1- Mackenzie Ian Department of Pathology and Laboratory Medicine, Vancouver General hospital, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Perry Robert Department of Neuropathology, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, UK aut NATIONALLICENCE 700 1- Skullerud Kari Department of Pathology, Rikshospitalet, N-0027, Oslo, Norway aut NATIONALLICENCE 700 1- Yokoo Hideaki Department of Pathology, Gunma University School of Medicine, Maebashi, Japan aut NATIONALLICENCE 700 1- Cairns Nigel Charles F. and Joanne Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St Louis, MO, USA aut NATIONALLICENCE 773 0- Journal of Neural Transmission Springer Vienna 118/11(2011-11-01), 1651-1657 0300-9564 118:11<1651 2011 118 702 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer