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  • Differential diagnosis of vacuolar myopathies in the NGS era.
    Brain Pathol. (IF 6.155) Pub Date : 2020-05-17
    Dorothea Mair,Saskia Biskup,Wolfram Kress,Angela Abicht,Wolfgang Brück,Sabrina Zechel,Karl Christian Knop,Fatima Barbara Koenig,Shelisa Tey,Stefan Nikolin,Katja Eggermann,Ingo Kurth,Andreas Ferbert,Joachim Weis

    Altered autophagy accompanied by abnormal autophagic (rimmed) vacuoles detectable by light and electron microscopy is a common denominator of many familial and sporadic non-inflammatory muscle diseases. Even in the era of next generation sequencing (NGS), late-onset vacuolar myopathies remain a diagnostic challenge. We identified 32 adult vacuolar myopathy patients from 30 unrelated families, studied

    更新日期:2020-05-17
  • Corrigendum.
    Brain Pathol. (IF 6.155) Pub Date : 2020-05-01

    In this paper (1), the author name You Jing has been corrected to be listed as Jing You. Therefore, the correct author list should be: Wenbo He, Jing You, Qianfen Wan, Ke Xiao, Kening Chen, Yuan Lu, Liang Li, Yajie Tang, Yunte Deng, Zhaohui Yao, Junqiu Yue, Gang Cao.

    更新日期:2020-05-08
  • Pathology, diagnostics, and classification of medulloblastoma.
    Brain Pathol. (IF 6.155) Pub Date : 2020-05-01
    Brent A Orr

    Medulloblastoma (MB) is the most common CNS embryonal tumor. While the overall cure rate is around 70%, patients with high-risk disease continue to have poor outcome and experience long-term morbidity. MB is among the tumors for which diagnosis, risk stratification, and clinical management has shown the most rapid advancement. These advances are largely due to technological improvements in diagnosis

    更新日期:2020-05-08
  • Investigating the presence of doubly phosphorylated α-synuclein at tyrosine 125 and serine 129 in idiopathic Lewy body diseases.
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-23
    Muneera Fayyad,Daniel Erskine,Nour K Majbour,Nishant N Vaikath,Simona S Ghanem,Indulekha P Sudhakaran,Houari Abdesselem,Agaristi Lamprokostopoulou,Kostas Vekrellis,Christopher M Morris,Johannes Attems,Omar M A El-Agnaf

    Aggregation of the protein α-synuclein (α-syn) into insoluble intracellular assemblies termed Lewy bodies (LBs) is thought to be a critical pathogenic event in LB diseases such as Parkinson's disease and dementia with LBs. In LB diseases, the majority of α-syn is phosphorylated at serine 129 (pS129), suggesting that this is an important disease-related post-translational modification (PTM). However

    更新日期:2020-05-06
  • Factors associated with development and distribution of granular/fuzzy astrocytes in neurodegenerative diseases.
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-15
    Tomoko Miki,Osamu Yokota,Takashi Haraguchi,Hideki Ishizu,Masato Hasegawa,Takeshi Ishihara,Shu-Ichi Ueno,Shintaro Takenoshita,Seishi Terada,Norihito Yamada

    Granular/fuzzy astrocytes (GFAs), a subtype of "aging-related tau astrogliopathy," are noted in cases bearing various neurodegenerative diseases. However, the pathogenic significance of GFAs remains unclear. We immunohistochemically examined the frontal cortex, caudate nucleus, putamen and amygdala in 105 cases composed of argyrophilic grain disease cases (AGD, N = 26), and progressive supranuclear

    更新日期:2020-05-06
  • Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-29
    Christina E Toomey,Wendy Heywood,Bridget C Benson,Georgia Packham,Kevin Mills,Tammaryn Lashley

    Triggering receptor expressed on myeloid cells 2 TREM2 was identified as a risk factor for late onset Alzheimer's disease (AD). Here we compared TREM2 cases with a variant (TREM2+ ) and cases without a TREM2 variant (TREM2- ), considering pathological burden, inflammatory response and altered canonical pathways and biochemical functions between the cohorts. We hypothesised that TREM2+ cases would have

    更新日期:2020-04-29
  • B cell rich meningeal inflammation associates with increased spinal cord pathology in multiple sclerosis.
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-26
    Camilla Reali,Roberta Magliozzi,Federico Roncaroli,Richard Nicholas,Owain W Howell,Richard Reynolds

    Increased inflammation in the cerebral meninges is associated with extensive subpial cortical grey matter pathology in the forebrain and a more severe disease course in a substantial proportion of secondary progressive multiple sclerosis (SPMS) cases. It is not known whether this relationship extends to spinal cord pathology. We assessed the contribution of meningeal and parenchymal immune infiltrates

    更新日期:2020-04-26
  • Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis.
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-22
    Mathilde Duchesne,Sarah Leonard-Louis,Océane Landon-Cardinal,Céline Anquetil,Kuberaka Mariampilla,Quentin Monzani,Olivier Benveniste,Yves Allenbach

    AIMS Oedema of the limbs is uncommon in idiopathic inflammatory myopathies (IIM). The few reported cases have been associated with severe and refractory dermatomyositis (DM), sometimes in association with cancers. We aimed to determine if oedematous myositis is a homogeneous subtype based on clinical, serological and pathological features. METHODS This is a retrospective observational study performed

    更新日期:2020-04-23
  • cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading
    Brain Pathol. (IF 6.155) Pub Date : 2020-04-19
    David N. Louis; Pieter Wesseling; Kenneth Aldape; Daniel J. Brat; David Capper; Ian A. Cree; Charles Eberhart; Dominique Figarella‐Branger; Maryam Fouladi; Gregory N. Fuller; Caterina Giannini; Christine Haberler; Cynthia Hawkins; Takashi Komori; Johan M. Kros; HK Ng; Brent A. Orr; Sung‐Hye Park; Werner Paulus; Arie Perry; Torsten Pietsch; Guido Reifenberger; Marc Rosenblum; Brian Rous; Felix Sahm;

    cIMPACT‐NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to evaluate and make practical recommendations on recent advances in the field of CNS tumor classification, particularly in light of the rapid progress in molecular insights into these neoplasms. For Round 2 of its deliberations, cIMPACT‐NOW Working Committee 3 was reconstituted and convened

    更新日期:2020-04-22