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  1. Research

    Lessons learned about [F-18]-AV-1451 off-target binding from an autopsy-confirmed Parkinson’s case

    [F-18]-AV-1451 is a novel positron emission tomography (PET) tracer with high affinity to neurofibrillary tau pathology in Alzheimer’s disease (AD). PET studies have shown increased tracer retention in patient...

    Marta Marquié, Eline E. Verwer, Avery C. Meltzer, Sally Ji Who Kim, Cinthya Agüero, Jose Gonzalez, Sara J. Makaretz, Michael Siao Tick Chong, Prianca Ramanan, Ana C. Amaral, Marc D. Normandin, Charles R. Vanderburg, Stephen N. Gomperts, Keith A. Johnson, Matthew P. Frosch and Teresa Gómez-Isla

    Acta Neuropathologica Communications 2017 5:75

    Published on: 19 October 2017

  2. Research

    Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

    The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically o...

    Lotta Parviainen, Sybille Dihanich, Greg W. Anderson, Andrew M. Wong, Helen R. Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J. Heales, Hannah M. Mitchison, Brenda P. Williams and Jonathan D. Cooper

    Acta Neuropathologica Communications 2017 5:74

    Published on: 17 October 2017

  3. Research

    Distinct deposition of amyloid-β species in brains with Alzheimer’s disease pathology visualized with MALDI imaging mass spectrometry

    Amyloid β (Aβ) deposition in the brain is an early and invariable feature of Alzheimer’s disease (AD). The Aβ peptides are composed of about 40 amino acids and are generated from amyloid precursor proteins (AP...

    Nobuto Kakuda, Tomohiro Miyasaka, Noriyuki Iwasaki, Takashi Nirasawa, Satoko Wada-Kakuda, Junko Takahashi-Fujigasaki, Shigeo Murayama, Yasuo Ihara and Masaya Ikegawa

    Acta Neuropathologica Communications 2017 5:73

    Published on: 16 October 2017

  4. Research

    Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

    Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this ...

    Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd and Wolfgang A. Linke

    Acta Neuropathologica Communications 2017 5:72

    Published on: 15 September 2017

  5. Research

    Transmission of α-synuclein-containing erythrocyte-derived extracellular vesicles across the blood-brain barrier via adsorptive mediated transcytosis: another mechanism for initiation and progression of Parkinson’s disease?

    Parkinson’s disease (PD) pathophysiology develops in part from the formation, transmission, and aggregation of toxic species of the protein α-synuclein (α-syn). Recent evidence suggests that extracellular vesi...

    Junichi Matsumoto, Tessandra Stewart, Lifu Sheng, Na Li, Kristin Bullock, Ning Song, Min Shi, William A Banks and Jing Zhang

    Acta Neuropathologica Communications 2017 5:71

    Published on: 13 September 2017

  6. Research

    Effects of sustained i.c.v. infusion of lupus CSF and autoantibodies on behavioral phenotype and neuronal calcium signaling

    Systemic lupus erythematosus (SLE) is a potentially fatal autoimmune disease that is often accompanied by brain atrophy and diverse neuropsychiatric manifestations of unknown origin. More recently, it was obse...

    Minesh Kapadia, Dunja Bijelić, Hui Zhao, Donglai Ma, Ljudmila Stojanovich, Milena Milošević, Pavle Andjus and Boris Šakić

    Acta Neuropathologica Communications 2017 5:70

    Published on: 7 September 2017

  7. Research

    Alzheimer’s disease pathological lesions activate the spleen tyrosine kinase

    The pathology of Alzheimer’s disease (AD) is characterized by dystrophic neurites (DNs) surrounding extracellular Aβ-plaques, microgliosis, astrogliosis, intraneuronal tau hyperphosphorylation and aggregation....

    Jonas Elias Schweig, Hailan Yao, David Beaulieu-Abdelahad, Ghania Ait-Ghezala, Benoit Mouzon, Fiona Crawford, Michael Mullan and Daniel Paris

    Acta Neuropathologica Communications 2017 5:69

    Published on: 6 September 2017

  8. Research

    Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration

    Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is associated with the accumulation of pathological neuronal and glial intracytoplasmic inclusions as well as accompanying neuron loss. We ex...

    Ahmed Yousef, John L. Robinson, David J. Irwin, Matthew D. Byrne, Linda K. Kwong, Edward B. Lee, Yan Xu, Sharon X. Xie, Lior Rennert, EunRan Suh, Vivianna M. Van Deerlin, Murray Grossman, Virginia M.-Y. Lee and John Q. Trojanowski

    Acta Neuropathologica Communications 2017 5:68

    Published on: 6 September 2017

  9. Research

    Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

    Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement t...

    J. Hordeaux, L. Dubreil, C. Robveille, J. Deniaud, Q. Pascal, B. Dequéant, J. Pailloux, L. Lagalice, M. Ledevin, C. Babarit, P. Costiou, F. Jamme, M. Fusellier, Y. Mallem, C. Ciron, C. Huchet…

    Acta Neuropathologica Communications 2017 5:66

    Published on: 6 September 2017

  10. Research

    Enhanced exosome secretion in Down syndrome brain - a protective mechanism to alleviate neuronal endosomal abnormalities

    A dysfunctional endosomal pathway and abnormally enlarged early endosomes in neurons are an early characteristic of Down syndrome (DS) and Alzheimer’s disease (AD). We have hypothesized that endosomal material...

    Sébastien A. Gauthier, Rocío Pérez-González, Ajay Sharma, Fang-Ke Huang, Melissa J. Alldred, Monika Pawlik, Gurjinder Kaur, Stephen D. Ginsberg, Thomas A. Neubert and Efrat Levy

    Acta Neuropathologica Communications 2017 5:65

    Published on: 29 August 2017

  11. Review

    RNA biology of disease-associated microsatellite repeat expansions

    Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with o...

    Kushal J. Rohilla and Keith T. Gagnon

    Acta Neuropathologica Communications 2017 5:63

    Published on: 29 August 2017

  12. Research

    The frequency and prognostic effect of TERT promoter mutation in diffuse gliomas

    Mutations in the telomerase reverse transcriptase gene promoter (TERTp) are common in glioblastomas (GBMs) and oligodendrogliomas (ODGs), and therefore, have a key role in tumorigenesis and may be of prognostic v...

    Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi and Sung-Hye Park

    Acta Neuropathologica Communications 2017 5:62

    Published on: 29 August 2017

  13. Research

    Connectivity, not region-intrinsic properties, predicts regional vulnerability to progressive tau pathology in mouse models of disease

    Spatiotemporal tau pathology progression is regarded as highly stereotyped within each type of degenerative condition. For instance, AD has a progression of tau pathology consistently beginning in the entorhin...

    Chris Mezias, Eve LoCastro, Chuying Xia and Ashish Raj

    Acta Neuropathologica Communications 2017 5:61

    Published on: 14 August 2017

  14. Research

    Generation and characterization of new monoclonal antibodies targeting the PHF1 and AT8 epitopes on human tau

    Tauopathies are a group of neurodegenerative disorders, including Alzheimer’s disease, defined by the presence of brain pathological inclusions comprised of abnormally aggregated and highly phosphorylated tau ...

    Kevin H. Strang, Marshall S. Goodwin, Cara Riffe, Brenda D. Moore, Paramita Chakrabarty, Yona Levites, Todd E. Golde and Benoit I. Giasson

    Acta Neuropathologica Communications 2017 5:58

    Published on: 31 July 2017

  15. Research

    Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer’s disease: analysis of Osaka mutation-knockin mice

    The E693Δ (Osaka) mutation in APP is linked to familial Alzheimer’s disease. While this mutation accelerates amyloid β (Aβ) oligomerization, only patient homozygotes suffer from dementia, implying that this mutat...

    Tomohiro Umeda, Tetsuya Kimura, Kayo Yoshida, Keizo Takao, Yuki Fujita, Shogo Matsuyama, Ayumi Sakai, Minato Yamashita, Yuki Yamashita, Kiyouhisa Ohnishi, Mamiko Suzuki, Hiroshi Takuma, Tsuyoshi Miyakawa, Akihiko Takashima, Takashi Morita, Hiroshi Mori…

    Acta Neuropathologica Communications 2017 5:59

    Published on: 31 July 2017

  16. Research

    Oligomeric amyloid-beta induces MAPK-mediated activation of brain cytosolic and calcium-independent phospholipase A2 in a spatial-specific manner

    Alzheimer’s disease (AD) is histopathologically characterized by the build-up of fibrillar amyloid beta (Aβ) in the form of amyloid plaques and the development of intraneuronal neurofibrillary tangles consisti...

    Juan Pablo Palavicini, Chunyan Wang, Linyuan Chen, Kristen Hosang, Jianing Wang, Takami Tomiyama, Hiroshi Mori and Xianlin Han

    Acta Neuropathologica Communications 2017 5:56

    Published on: 27 July 2017

  17. Research

    Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

    Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological ...

    Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer and Philippe Latour

    Acta Neuropathologica Communications 2017 5:55

    Published on: 14 July 2017

  18. Research

    Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

    Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter personality and cognition. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and c...

    Yvonne S. Davidson, Andrew C. Robinson, Louis Flood, Sara Rollinson, Bridget C. Benson, Yasmine T. Asi, Anna Richardson, Matthew Jones, Julie S. Snowden, Stuart Pickering-Brown, Tammaryn Lashley and David M. A. Mann

    Acta Neuropathologica Communications 2017 5:54

    Published on: 30 June 2017

  19. Research

    The novel compound PBT434 prevents iron mediated neurodegeneration and alpha-synuclein toxicity in multiple models of Parkinson’s disease

    Elevated iron in the SNpc may play a key role in Parkinson’s disease (PD) neurodegeneration since drug candidates with high iron affinity rescue PD animal models, and one candidate, deferirpone, has shown effi...

    David I. Finkelstein, Jessica L. Billings, Paul A. Adlard, Scott Ayton, Amelia Sedjahtera, Colin L. Masters, Simon Wilkins, David M. Shackleford, Susan A. Charman, Wojciech Bal, Izabela A Zawisza, Ewa Kurowska, Andrew L. Gundlach, Sheri Ma, Ashley I. Bush, Dominic J. Hare…

    Acta Neuropathologica Communications 2017 5:53

    Published on: 28 June 2017

  20. Research

    Immunoproteasome deficiency alters microglial cytokine response and improves cognitive deficits in Alzheimer’s disease-like APPPS1 mice

    The immunoproteasome (iP) represents a specialized type of proteasomes, which plays an important role in the clearance of oxidant-damaged proteins under inflammatory and pathological conditions determining the...

    Lisa K. Wagner, Kate E. Gilling, Eileen Schormann, Peter M. Kloetzel, Frank L. Heppner, Elke Krüger and Stefan Prokop

    Acta Neuropathologica Communications 2017 5:52

    Published on: 24 June 2017

  21. Research

    Neonatal AAV delivery of alpha-synuclein induces pathology in the adult mouse brain

    Abnormal accumulation of alpha-synuclein (αsyn) is a pathological hallmark of Lewy body related disorders such as Parkinson’s disease and Dementia with Lewy body disease. During the past two decades, a myriad ...

    Marion Delenclos, Ayman H. Faroqi, Mei Yue, Aishe Kurti, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W. Dickson, John D. Fryer and Pamela J. McLean

    Acta Neuropathologica Communications 2017 5:51

    Published on: 23 June 2017

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