Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
Ian R. A. Mackenzie,Manuela Neumann,Eileen H. Bigio,Nigel J. Cairns,Irina Alafuzoff,Jillian J. Kril,Gabor G. Kovacs,Bernardino Ghetti,Glenda M. Halliday,Ida E. Holm,Paul G. Ince,Wouter Kamphorst,Tamas Revesz,Annemieke J.M. Rozemuller,Samir Kumar-Singh,Haruhiko Akiyama,Atik Baborie,Salvatore Spina,Dennis W. Dickson,John Q. Trojanowski,David M. A. Mann +20 more
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TLDR
A system of nosology was introduced that grouped the FTLD subtypes into broad categories, based on the molecular defect that is most characteristic, according to current evidence, and provided a concise and consistent terminology that has now been widely adopted in the literature.Abstract:
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration : an updateread more
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Toward a pathological definition of vascular dementia.
Lea T. Grinberg,Helmut Heinsen +1 more
TL;DR: There are no widely accepted neuropathological criteria for vascular dementia, although creating such a standard would make it possible to perform large multicentre clinicopathological studies and to better understand which, how, and where vascular brain lesions lead to cognitive decline.
Journal ArticleDOI
Differentiation of frontotemporal dementia from dementia with Lewy bodies using FP-CIT SPECT
Shirlony Morgan,Paul Kemp,Jan Booij,Durval C. Costa,Shalandran Padayachee,Lean Lee,Christopher Barber,Janet Carter,Zuzana Walker,Zuzana Walker +9 more
TL;DR: This study highlights to clinicians that a positive [123I]FP-CIT SPECT scan, even in a patient with an EPMS, does not exclude the diagnosis of FTD and emphasises the importance of a comprehensive clinical evaluation and a detailed cognitive assessment.
Journal ArticleDOI
Intrinsic connectivity network disruption in progressive supranuclear palsy.
Raquel C. Gardner,Adam L. Boxer,Andrew Trujillo,Jacob B. Mirsky,Christine C. Guo,Efstathios D. Gennatas,Hilary W. Heuer,Eric M. Fine,Juan Zhou,Joel H. Kramer,Bruce L. Miller,William W. Seeley +11 more
TL;DR: In this article, the authors mapped intrinsic connectivity to the dorsal midbrain tegmentum (dMT), a region that shows focal atrophy in PSP, and found significant connectivity disruptions within this network, particularly within corticosubcortical and cortico-brainstem interactions.
Journal ArticleDOI
Novel diagnostic cerebrospinal fluid biomarkers for pathologic subtypes of frontotemporal dementia identified by proteomics
Charlotte E. Teunissen,Naura Elias,Marleen J.A. Koel-Simmelink,Sisi Durieux-Lu,Arjan Malekzadeh,Thang V. Pham,Sander R. Piersma,Tommaso Beccari,Lieke H.H. Meeter,Elise G.P. Dopper,Elise G.P. Dopper,John C. van Swieten,John C. van Swieten,Connie R. Jimenez,Yolande A.L. Pijnenburg +14 more
TL;DR: Reliable cerebrospinal fluid biomarkers enabling identification of frontotemporal dementia (FTD) and its pathologic subtypes are lacking.
Journal ArticleDOI
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations
Manuela Neumann,Chiara F. Valori,Olaf Ansorge,Hans A. Kretzschmar,David G. Munoz,Hirofumi Kusaka,Osamu Yokota,Kenji Ishihara,Lee-Cyn Ang,Juan M. Bilbao,Ian R. A. Mackenzie +10 more
TL;DR: Inclusions in FTLD-FUS revealed co-accumulation of all members of the FET protein family, that include FUS, Ewing’s sarcoma (EWS) and TATA-binding protein-associated factor 15 (TAF15) suggesting a more complex disturbance of transportin-mediated nuclear import of proteins in FT LD-F US compared to ALS-Fus.
References
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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Thomas J. Kwiatkowski,D. A. Bosco,D. A. Bosco,A. L. LeClerc,A. L. LeClerc,Eric Tamrazian,Charles R. Vanderburg,Carsten Russ,Carsten Russ,A. Davis,James M. Gilchrist,E. J. Kasarskis,Theodore L. Munsat,Paul N. Valdmanis,Guy A. Rouleau,Betsy A. Hosler,Pietro Cortelli,P. J. De Jong,Yuko Yoshinaga,Jonathan L. Haines,Margaret A. Pericak-Vance,Jianhua Yan,Nicola Ticozzi,Nicola Ticozzi,Nicola Ticozzi,Teepu Siddique,Diane McKenna-Yasek,Peter C. Sapp,Peter C. Sapp,H R Horvitz,John Landers,John Landers,Robert H. Brown,Robert H. Brown +33 more
TL;DR: Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance,Boris Rogelj,Tibor Hortobágyi,Kurt J. De Vos,Agnes L. Nishimura,Jemeen Sreedharan,Xun Hu,Bradley N. Smith,Deborah Ruddy,Paul Wright,Jeban Ganesalingam,Kelly L. Williams,Vineeta B. Tripathi,Safa Al-Saraj,Ammar Al-Chalabi,P. Nigel Leigh,Ian P. Blair,Garth A. Nicholson,Garth A. Nicholson,Jackie de Belleroche,Jean-Marc Gallo,Christopher C.J. Miller,Christopher C.J. Miller,Christopher Shaw +23 more
TL;DR: A missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6, is identified, which suggests that a common mechanism may underlie motor neuron degeneration.
Journal ArticleDOI
A new subtype of frontotemporal lobar degeneration with FUS pathology.
Manuela Neumann,Rosa Rademakers,Sigrun Roeber,Matt Baker,Hans A. Kretzschmar,Ian R. A. Mackenzie +5 more
TL;DR: Findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTd and amyotrophic lateral sclerosis are closely related conditions.
Journal ArticleDOI
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration : consensus recommendations
Ian R. A. Mackenzie,Manuela Neumann,Eileen H. Bigio,Nigel J. Cairns,Irina Alafuzoff,Jillian J. Kril,Gabor G. Kovacs,Bernardino Ghetti,Glenda M. Halliday,Ida Elisabeth Holm,Paul G. Ince,Wouter Kamphorst,Tamas Revesz,Annemieke J.M. Rozemuller,Samir Kumar-Singh,Haruhiko Akiyama,Atik Baborie,Salvatore Spina,Dennis W. Dickson,John Q. Trojanowski,David M. A. Mann +20 more
TL;DR: Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration : consensus recommendations
Journal ArticleDOI
Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease.
Manuela Neumann,Sigrun Roeber,Hans A. Kretzschmar,Rosa Rademakers,Matt Baker,Ian R. A. Mackenzie +5 more
TL;DR: Findings suggest that FUS may play an important role in the pathogenesis of NIFID, and double-label immunofluorescence confirmed that many cells had only FUS- positive inclusions and that all cells with IF-positive inclusions also contained pathological FUS.
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