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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An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
Claire Troakes,Satomi Maekawa,Lokesh Wijesekera,Boris Rogelj,László Siklós,Christopher G. Bell,Bradley N. Smith,Stephen Newhouse,Caroline Vance,Lauren Johnson,Tibor Hortobágyi,Aleksey Shatunov,Ammar Al-Chalabi,Nigel Leigh,Christopher Shaw,Andrew T. King,Andrew T. King,Safa Al-Sarraj,Safa Al-Sarraj +18 more
TL;DR: It is concluded that these chromosome 9‐linked MND/ALS cases represent a pathological sub‐group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline.
Journal ArticleDOI
Duration of American Football Play and Chronic Traumatic Encephalopathy.
Jesse Mez,Daniel H. Daneshvar,Daniel H. Daneshvar,Bobak Abdolmohammadi,Alicia S. Chua,Michael L. Alosco,Patrick T. Kiernan,Patrick T. Kiernan,Laney Evers,Laura Marshall,Brett M. Martin,Joseph Palmisano,Christopher J. Nowinski,Ian Mahar,Jonathan D. Cherry,Jonathan D. Cherry,Jonathan D. Cherry,Victor E. Alvarez,Victor E. Alvarez,Victor E. Alvarez,Brigid Dwyer,Bertrand R. Huber,Thor D. Stein,Lee E. Goldstein,Douglas I. Katz,Robert C. Cantu,Rhoda Au,Neil W. Kowall,Robert S. Stern,Michael D. McClean,Jennifer Weuve,Yorghos Tripodis,Ann C. McKee +32 more
TL;DR: This work hypothesized a dose–response relationship between duration of football played and CTE risk and severity, and studied the relationship between exposure to contact and collision sports, including American football.
Journal ArticleDOI
The ubiquitin proteasome system in neurodegenerative diseases: culprit, accomplice or victim?
TL;DR: Critical reviewing the involvement of the UPS in specific neurodegenerative diseases is focused on and it is discussed if UPS impairment is a cause, a consequence or both of the disease.
Journal ArticleDOI
Circulating brain-enriched microRNAs as novel biomarkers for detection and differentiation of neurodegenerative diseases
Kira S. Sheinerman,Jon B. Toledo,Jon B. Toledo,Vladimir G. Tsivinsky,David J. Irwin,Murray Grossman,Daniel Weintraub,Howard I. Hurtig,Alice Chen-Plotkin,David A. Wolk,Leo McCluskey,Lauren Elman,John Q. Trojanowski,Samuil R. Umansky +13 more
TL;DR: The assessment of circulating brain-enriched microRNAs as potential biomarkers for Alzheimer’s disease, frontotemporal dementia, Parkinson's disease, and amyotrophic lateral sclerosis suggests the possibility of developing microRNA-based diagnostics for detection and differentiation of NDs.
Journal ArticleDOI
Activity-dependent FUS dysregulation disrupts synaptic homeostasis
Chantelle F. Sephton,Amy A. Tang,Ashwinikumar Kulkarni,James E. West,Mieu Brooks,Jeremy J. Stubblefield,Yun Liu,Michael Q. Zhang,Carla B. Green,Kimberly M. Huber,Eric J. Huang,Joachim Herz,Gang Yu +12 more
TL;DR: Novel transgenic mouse models expressing low levels of wild-type and mutant human FUS, both of which recapitulate aspects of the human diseases are generated, and a profound difference in the underlying mechanisms by which missense mutation and wild- type overexpression cause disease is found.
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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