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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Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies.
Gesine Respondek,Gesine Respondek,Max Joseph Grimm,Max Joseph Grimm,Ines Piot,Ines Piot,Thomas Arzberger,Yaroslau Compta,Elisabet Englund,Leslie W. Ferguson,Ellen Gelpi,Ellen Gelpi,Sigrun Roeber,Armin Giese,Murray Grossman,David J. Irwin,Wassilios G. Meissner,Christer Nilsson,Alexander Pantelyat,Alex Rajput,John C. van Swieten,Claire Troakes,Günter U. Höglinger,Günter U. Höglinger,Günter U. Höglinger +24 more
TL;DR: The Movement Disorder Society criteria for progressive supranuclear palsy introduced the category “probable 4‐repeat (4R)‐tauopathy” for joint clinical diagnosis of progressive suprising palsy and corticobasal degeneration.
Journal ArticleDOI
Past, Present, and Future of Non-invasive Brain Stimulation Approaches to Treat Cognitive Impairment in Neurodegenerative Diseases: Time for a Comprehensive Critical Review.
Clara Sanches,Chloé Stengel,Juliette Godard,Justine Mertz,Marc Teichmann,Raffaella Migliaccio,Antoni Valero-Cabré +6 more
TL;DR: In this paper, the authors present evidence gathered for nearly a decade on non-invasive brain stimulation (NIBS), a less known therapeutic strategy aiming to limit cognitive decline associated with neurodegenerative conditions.
Journal ArticleDOI
Evolution of neuronal and glial tau isoforms in chronic traumatic encephalopathy.
Jonathan D. Cherry,Soong Ho Kim,Thor D. Stein,Morgan Pothast,Morgan Pothast,Raymond Nicks,Raymond Nicks,Raymond Nicks,Gaoyuan Meng,Bertrand R. Huber,Bertrand R. Huber,Bertrand R. Huber,Jesse Mez,Michael L. Alosco,Yorghos Tripodis,Kurt Farrell,Victor E. Alvarez,Victor E. Alvarez,Victor E. Alvarez,Ann C. McKee,John F. Crary +20 more
TL;DR: Biochemical and histologic analysis reveals a progressive shift in tau isoforms that correlates with CTE stage and extent of neuronal pathology, and demonstrates that CTE is a mixed 4R/3R tauopathy.
Journal ArticleDOI
New Perspective on Parkinsonism in Frontotemporal Lobar Degeneration
Hee Kyung Park,Sun Ju Chung +1 more
TL;DR: There is a need to understand parkinsonism in FTLD in order to obtain a better understanding of the disease, and increased attention is needed on the subject.
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Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort
Gabriel Walt,Hannah M Burris,Christopher B. Brady,Christopher B. Brady,Christopher B. Brady,Keith R Spencer,Victor E. Alvarez,Bertrand R. Huber,Latease Guilderson,Nazifa Abdul Rauf,Derek Collins,Tarnjit Singh,Rebecca M. Mathias,Rebecca M. Mathias,James G Averill,Sean E. Walker,Ian Robey,Ann C. McKee,Neil W. Kowall,Neil W. Kowall,Thor D. Stein +20 more
TL;DR: Overall, compared with ALS in isolation, comorbid ALS+CTE is associated with a history of TBI and has a distinct clinical and pathological presentation.
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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