Llibre-Guerra, Jorge J Lee, Suzee E. Suemoto, Claudia K Ehrenberg, Alexander J. Kovacs, Gabor G. Karydas, Anna Staffaroni, Adam De Paula Franca Resende, Elisa Kim, Eun-Joo Hwang, Ji-Hye
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Published in
Brain pathology (Zurich, Switzerland)
Background: Polymorphisms in TMEM106B , a gene on chromosome 7p21.3 involved in lysosomal trafficking, correlates to worse neuropathological and clinical outcomes in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) with TDP-43 inclusions. In a small cohort of C9orf72 expansion carriers, we previously found an atypica...
Tayler, Hannah Miners, J Scott Güzel, Özge MacLachlan, Rob Love, Seth
Published in
Brain pathology (Zurich, Switzerland)
In vascular dementia (VaD) and Alzheimer's disease (AD), cerebral hypoperfusion and blood-brain barrier (BBB) leakiness contribute to brain damage. In this study, we have measured biochemical markers and mediators of cerebral hypoperfusion and BBB in the frontal (BA6) and parietal (BA7) cortex and underlying white matter, to investigate the pathoph...
Alzate-Correa, Diego Mei-Ling Liu, Jillian Jones, Mikayla Silva, Talita M Alves, Michele Joana Burke, Elizabeth Zuñiga, Jessica Kaya, Behiye Zaza, Giuliana Aslan, Mehmet Tahir
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Published in
Brain pathology (Zurich, Switzerland)
Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. Some CCHS patients suffer mainly from deficiencies in CO2 and/or O2 respiratory chemoreflex, whereas other patients present with full apnea shortly after birth. Our goal was to identify th...
Stroobants, Stijn D'Hooge, Rudi Damme, Markus
Published in
Brain pathology (Zurich, Switzerland)
Genetic variants in TMEM106B are a major risk factor for several neurodegenerative diseases including frontotemporal degeneration, limbic-predominant age-related TDP-43 encephalopathy, Parkinson's disease, late-onset-Alzheimer's disease and constitute a genetic determinant of differential aging. TMEM106B encodes an integral lysosomal membrane prote...
Gami-Patel, Priya van Dijken, Irene Meeter, Lieke H Melhem, Shamiram Morrema, Tjado H J Scheper, Wiep van Swieten, John C Rozemuller, Annemieke J M Dijkstra, Anke A Hoozemans, Jeroen J M
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Published in
Brain pathology (Zurich, Switzerland)
A repeat expansion in the C9orf72 gene is the most prevalent genetic cause of frontotemporal dementia (C9-FTD). Several studies have indicated the involvement of the unfolded protein response (UPR) in C9-FTD. In human neuropathology, UPR markers are strongly associated with granulovacuolar degeneration (GVD). In this study we aim to assess the pres...
Smith, Adam R Mill, Jonathan Lunnon, Katie
Published in
Brain pathology (Zurich, Switzerland)
Alzheimer's disease (AD) is a growing global healthcare epidemic. Owing to advances in technology, genome-scale studies of various layers of molecular information have been undertaken in recent years and robust variation in key loci have now been published and reproduced by others. This mini-symposium highlights four key areas of current research i...
Schrauben, Michael Dempster, Emma Lunnon, Katie
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Brain pathology (Zurich, Switzerland)
Recent studies have highlighted a potential role of genetic and epigenetic variation in the development of Alzheimer's disease. Application of the CRISPR-Cas genome-editing platform has enabled investigation of the functional impact that Alzheimer's disease-associated gene mutations have on gene expression. Moreover, recent advances in the technolo...
van den Hove, Daniel L A Riemens, Renzo J M Koulousakis, Philippos Pishva, Ehsan
Published in
Brain pathology (Zurich, Switzerland)
Alzheimer's disease (AD) represents a devastating progressive neurodegenerative disease with a complex pathophysiology, affecting millions of people worldwide. Recent epigenome-wide association studies suggest a key role for epigenetic mechanisms in its development and course. Despite the fact that current evidence on the role of epigenetic dysregu...
Ma, Yiyi Klein, Hans-Ulrich De Jager, Philip L
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Brain pathology (Zurich, Switzerland)
The past decade has seen the maturation of multiple different forms of high-dimensional molecular profiling to the point that these methods could be deployed in initially hundreds and more recently thousands of human samples. In the field of Alzheimer's disease (AD), these profiles have been applied to the target organ: the aging brain. In a growin...
Cherry, Jonathan D Kim, Soong Ho Stein, Thor D Pothast, Morgan J Nicks, Raymond Meng, Gaoyuan Huber, Bertrand R Mez, Jesse Alosco, Michael L Tripodis, Yorghos
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Published in
Brain pathology (Zurich, Switzerland)
Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy characterized by accumulation of hyperphosphorylated tau (p-tau) in perivascular aggregates in neurons and glia at the depths of neocortical sulci and progresses to diffuse neocortical, allocortical and brainstem structures. The strongest risk factor is exposure to repetitive h...
