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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FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis.
TL;DR: Findings indicate that ALS-F US and FTLD-FUS have different pathomechanisms and add TAF15 and EWS to the growing list of RNA-binding proteins involved in neurodegeneration.
Clinicopathological correlations in behavioural variant frontotemporal dementia
David C. Perry,Jesse A. Brown,Katherine L. Possin,Samir Datta,Andrew Trujillo,Anneliese Radke,Anna Karydas,John Kornak,Ana C. Sias,Gil D. Rabinovici,Maria Luisa Gorno-Tempini,Adam L. Boxer,Mary De May,Katherine P. Rankin,Virginia E. Sturm,Suzee E. Lee,Brandy R. Matthews,Aimee W. Kao,Keith A. Vossel,Maria Carmela Tartaglia,Zachary A. Miller,Sang Won Seo,Manu Sidhu,Stephanie E. Gaus,Alissa L. Nana,Jose Norberto S. Vargas,Ji-Hye L. Hwang,Rik Ossenkoppele,Alainna B. Brown,Eric J. Huang,Giovanni Coppola,Howard J. Rosen,Daniel H. Geschwind,John Q. Trojanowski,Lea T. Grinberg,Joel H. Kramer,Bruce L. Miller,William W. Seely +37 more
TL;DR: Voxel-based morphometry revealed that nearly all pathological subgroups and even individual patients share atrophy in anterior cingulate, frontoinsula, striatum, and amygdala, indicating that degeneration of these regions is intimately linked to the behavioural syndrome produced by these diverse aetiologies.
Journal ArticleDOI
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.
Swapna Thomas-Jinu,Patricia M. Gordon,Triona Fielding,Richard Taylor,Bradley N. Smith,Victoria Snowden,Eric Blanc,Caroline Vance,Simon Topp,Chun Hao Wong,Holger Bielen,Katherine L. Williams,Emily P. McCann,Garth A. Nicholson,Garth A. Nicholson,Alejandro Pan-Vazquez,Archa H. Fox,Charles S. Bond,William S. Talbot,Ian P. Blair,Christopher Shaw,Corinne Houart +21 more
TL;DR: The axonal function of the splicing factor SFPQ in motor development is uncovered and the importance of the coiled-coil domain in this process is highlighted.
Journal ArticleDOI
Calcium dysregulation contributes to neurodegeneration in FTLD patient iPSC-derived neurons
Keiko Imamura,Naruhiko Sahara,Nicholas M. Kanaan,Kayoko Tsukita,Takayuki Kondo,Yumiko Kutoku,Yutaka Ohsawa,Yoshihide Sunada,Koichi Kawakami,Akitsu Hotta,Satoshi Yawata,Dai Watanabe,Masato Hasegawa,John Q. Trojanowski,Virginia M.-Y. Lee,Tetsuya Suhara,Makoto Higuchi,Haruhisa Inoue +17 more
TL;DR: It is found that FTLD-Tau neurons, either with an intronic MAPT mutation or with an exonic mutation, developed accumulation and extracellular release of misfolded tau followed by neuronal death, which suggest that neuronal activity may regulate neurodegeneration in tauopathy.
Journal ArticleDOI
Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer’s disease
Lara Wahlster,Lara Wahlster,Muriel Arimon,Navine Nasser-Ghodsi,Kathryn Post,Alberto Serrano-Pozo,Kengo Uemura,Oksana Berezovska +7 more
TL;DR: It is found that oxidative stress, a common stress characteristic of aging and AD, causes pathogenic PS1 conformational change in neurons in vitro, which is accompanied by increased Aβ42/40 ratio.
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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