Neuropathology

Nathalie E. Synhaeve, Martin J. van den Bent, Pim J. French, Winand N. M. Dinjens, Peggy N. Atmodimedjo, Johan M. Kros, R. Verdijk, Clemens M. F. Dirven and Hendrikus J. Dubbink November 23, 2018

Since 2013 next-generation sequencing (NGS) targeting genes mutated in diffuse gliomas is part of routine diagnostics in our institute. In the present report, we evaluate the use of this custom tailored NGS pl…

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Robert A. Coover, Tabitha E. Healy, Li Guo, Katherine E. Chaney, Robert F. Hennigan, Craig S. Thomson, Lindsey E. Aschbacher-Smith, Michael P. Jankowski and Nancy Ratner November 23, 2018

Normal Schwann cells (SCs) are quiescent in adult nerves, when ATP is released from the nerve in an activity dependent manner. We find that suppressing nerve activity in adult nerves causes SC to enter the cel…

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admin November 21, 2018

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases that overlap in their clinical presentation, pathology and genetics, and likely represent a spectrum of one underlying disease. In ALS/FTD patients, neuroinflammation characterized by innate immune responses of tissue-resident glial cells is uniformly present on end-stage pathology, and human imaging studies and rodent models support that neuroinflammation begins early in disease pathogenesis.… Read More...

Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw and Tennore M. Ramesh November 20, 2018

A hexanucleotide repeat expansion (HRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (ALS/FTD). Current eviden…

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admin November 19, 2018

Abstract

Insoluble aggregates containing TDP-43 are widely observed in the diseased brain, and defined as “TDP-43 pathology” in a spectrum of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), Alzheimer’s disease and ALS with frontotemporal dementia. Here we report that Betz cells of patients with TDP-43 pathology display a distinct set of intracellular defects especially at the site of nuclear membrane, mitochondria and endoplasmic reticulum (ER).… Read More...

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