Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.
Published in Brain pathology (Zurich, Switzerland)
Oligodendroglial α-synucleinopathy-driven neuroinflammation in multiple system atrophy.
...Published in Brain pathology (Zurich, Switzerland)
Neuroinflammation and oligodendroglial cytoplasmic α-synuclein (α-syn) inclusions (GCIs) are important neuropathological characteristics of multiple system atrophy (MSA). GCIs are known to interfere with oligodendroglial maturation and consequently result in myelin loss. The neuroinflammatory phenotype in the context of MSA, however, remains poorly...
A 25-Year-Old Man with a Posterior Fossa Mass.
Published in Brain pathology (Zurich, Switzerland)
An 8-Year-Old Girl with Blepharospasm and Left Thalamic Tumor.
Published in Brain pathology (Zurich, Switzerland)
Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.
...Published in Brain pathology (Zurich, Switzerland)
We investigated the Central Nervous System (CNS) and skeletal muscle tissue from A woman was clinically diagnosed with amyotrophic lateral sclerosis (ALS) at the age of 22. Neuropathologic evaluation showed upper and lower motor neuron loss, corticospinal tract degeneration and skeletal muscle denervation. Analysis of the patient's Deoxyribonucleic...
Regulation of glioma cell invasion by 3q26 gene products PIK3CA, SOX2 and OPA1.
...Published in Brain pathology (Zurich, Switzerland)
Diffuse gliomas progress by invading neighboring brain tissue to promote postoperative relapse. Transcription factor SOX2 is highly expressed in invasive gliomas and maps to chromosome region 3q26 together with the genes for PI3K/AKT signaling activator PIK3CA and effector molecules of mitochondria fusion and cell invasion, MFN1 and OPA1. Gene copy...
Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA ...
...Published in Brain pathology (Zurich, Switzerland)
Ependymoma with RELA fusion has been defined as a novel entity of the revised World Health Organization 2016 classification of tumors of the central nervous system (CNS), characterized by fusion transcripts of the RELA gene and consequent pathological activation of the NFkB pathway. These tumors represent the majority of supratentorial ependymomas ...
A 36-Year-Old Woman With Right Eye Ptosis.
Published in Brain pathology (Zurich, Switzerland)
Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis.
...Published in Brain pathology (Zurich, Switzerland)
Neurocysticercosis is a parasitic brain disease caused by the larval form (Cysticercus cellulosae) of Taenia solium and is the leading cause of preventable epilepsy worldwide. However, the pathophysiology and relation to the wide range of clinical features remains poorly understood. Axonal swelling is emerging as an important early pathological fin...
Subicular hypotrophy in fetuses with Down syndrome and in the Ts65Dn model of Down syndrome.
Published in Brain pathology (Zurich, Switzerland)
Intellectual disability in Down syndrome (DS) has been attributed to neurogenesis impairment during fetal brain development. Consistently with explicit memory alterations observed in children with DS, fetuses with DS exhibit neurogenesis impairment in the hippocampus, a key region involved in memory formation and consolidation. Recent evidence sugg...
