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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Hippocampal sclerosis of aging, a prevalent and high-morbidity brain disease
Peter T. Nelson,Charles D. Smith,Erin L. Abner,Bernard R. Wilfred,Wang-Xia Wang,Janna H. Neltner,Michael D. Baker,David W. Fardo,Richard J. Kryscio,Stephen W. Scheff,Gregory A. Jicha,Kurt A. Jellinger,Linda J. Van Eldik,Frederick A. Schmitt +13 more
TL;DR: The published literature on HS-Aging provides strong evidence of an important and under-appreciated brain disease of aging and factors that are hypothesized to cause or modify the disease are discussed.
Journal ArticleDOI
CSF biomarkers cutoffs: the importance of coincident neuropathological diseases.
Jon B. Toledo,Johannes Brettschneider,Murray Grossman,Steven E. Arnold,William T. Hu,Sharon X. Xie,Virginia M.-Y. Lee,Leslie M. Shaw,John Q. Trojanowski +8 more
TL;DR: CSF diagnostic analyte panels that establish a positive diagnosis of Lewy body disease and FTLD are also needed, and must be established based on neuropathological rather than clinical diagnoses.
Journal ArticleDOI
Eating and hypothalamus changes in behavioral-variant frontotemporal dementia
Olivier Piguet,Olivier Piguet,Åsa Petersén,Bonnie Y.K. Lam,Bonnie Y.K. Lam,Sanaz Gabery,Karen E. Murphy,Karen E. Murphy,John R. Hodges,John R. Hodges,Glenda M. Halliday,Glenda M. Halliday +11 more
TL;DR: This study aimed to address the issue of hypothalamus role in feeding regulation in Behavioral‐variant frontotemporal dementia using 2 complementary approaches.
Journal ArticleDOI
TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia
Jonathan D. Rohrer,Felix Geser,Juan Zhou,Efstathios D. Gennatas,Manu Sidhu,John Q. Trojanowski,S.J. DeArmond,Bruce L. Miller,William W. Seeley +8 more
TL;DR: The antemortem clinical and neuroimaging features among patients with frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions have distinct clinical and neurological features, highlighting the relevance of FTLD-TDP subtyping to clinicopathologic correlation.
Journal ArticleDOI
Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology
Paul G. Ince,J. Robin Highley,Janine Kirby,Stephen B. Wharton,Hitoshi Takahashi,Michael J. Strong,Pamela J. Shaw +6 more
TL;DR: The emergence of TDP-proteinopathy represents a final common pathology associated with changes in multiple genes and opens the possibility of research by triangulation towards key common upstream molecular events, delivering final proof of the hypothesis that ALS and most FTD cases are disorders within a common pathology expressed as a clinico-anatomical spectrum.
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.
Journal ArticleDOI
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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