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Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.

Published in Brain pathology (Zurich, Switzerland)

We describe an autosomal dominant, multi-generational, amyotrophic lateral sclerosis (ALS) pedigree in which disease co-segregates with a heterozygous p.Y374X nonsense mutation within TDP-43. Mislocalization of TDP-43 and formation of insoluble TDP-43-positive neuronal cytoplasmic inclusions is the hallmark pathology in >95% of ALS patients. Neurop...

Targeting the interaction of GABAB receptors with CaMKII with an interfering peptide restores receptor expression after ...

Published in Brain pathology (Zurich, Switzerland)

Cerebral ischemia is the leading cause for long-term disability and mortality in adults due to massive neuronal death. Currently, there is no pharmacological treatment available to limit progressive neuronal death after stroke. A major mechanism causing ischemia-induced neuronal death is the excessive release of glutamate and the associated overexc...

TREM2-induced activation of microglia contributes to synaptic integrity in cognitively intact aged individuals with Alzh...

Published in Brain pathology (Zurich, Switzerland)

The existence of individuals who remain cognitively intact despite presenting histopathological signs of Alzheimer's disease (AD), here referred to as "Nondemented with AD neuropathology" (NDAN), suggests that some mechanisms are triggered to resist cognitive impairment. Exposed phosphatidylserine (ePS) represents a neuronal "eat-me" signal involve...

Attenuation of Piwil2 induced by hypoxic postconditioning prevents cerebral ischemic injury by inhibiting CREB2 promoter...

Published in Brain pathology (Zurich, Switzerland)

Epigenetic modification contributes to the pathogenesis of cerebral ischemia. Piwil2 belongs to the PIWI proteins subfamily and has a key role in the regulation of gene transcription through epigenetics. However, the roles of Piwil2 in cerebral ischemia have not been investigated. In this study, we aim to elucidate the roles and the underlying mole...

Dynamic induction of the myelin-associated growth inhibitor Nogo-A in perilesional plasticity regions after human spinal...

Published in Brain pathology (Zurich, Switzerland)

The myelin-associated inhibitor Nogo-A (Reticulon 4, RTN4) restricts axonal outgrowth, plasticity, and neural circuitry formation in experimental models of spinal cord injury (SCI) and is targeted in clinical interventions starting treatment within 4 weeks post-SCI. Specifically, Nogo-A expressed by oligodendroglia restricts compensatory neurite sp...

Clinical implementation of integrated molecular-morphologic risk prediction for meningioma.

Published in Brain pathology (Zurich, Switzerland)

Risk prediction for meningioma tumors was until recently almost exclusively based on morphological features of the tumor. To improve risk prediction, multiple models have been established that incorporate morphological and molecular features for an integrated risk prediction score. One such model is the integrated molecular-morphologic meningioma i...

A 53-year-old woman with a rapidly progressive, non-enhancing left frontotemporal lesion.

Published in Brain pathology (Zurich, Switzerland)

Fifty-three-year-old woman presented with chronic, episodic headache. © 2022 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.

Pathological changes within the cerebral vasculature in Alzheimer's disease: New perspectives.

Published in Brain pathology (Zurich, Switzerland)

Cerebrovascular disease underpins vascular dementia (VaD), but structural and functional changes to the cerebral vasculature contribute to disease pathology and cognitive decline in Alzheimer's disease (AD). In this review, we discuss the contribution of cerebral amyloid angiopathy and non-amyloid small vessel disease in AD, and the accompanying ch...

Deficiency of Tet3 in nucleus accumbens enhances fear generalization and anxiety-like behaviors in mice.

Published in Brain pathology (Zurich, Switzerland)

Stress-induced neuroepigenetic programming gains growing more and more interest in the studies of the etiology of posttraumatic stress disorder (PTSD). However, seldom attention is focused on DNA demethylation in fear memory generalization, which is the core characteristic of PTSD. Here, we show that ten-eleven translocation protein 3 (TET3), the m...

A 56-year-old woman with back pain and lower limbs weakness.

Published in Brain pathology (Zurich, Switzerland)