Hippocampal subfield pathologic Burden in Lewy body diseases versus Alzheimer's disease.
Published in Neuropathology and applied neurobiology
Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.
...Published in Neuropathology and applied neurobiology
We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, al...
Review: Microglia in motor neuron disease.
Published in Neuropathology and applied neurobiology
Motor Neuron Disease (MND) is a fatal neurodegenerative condition, which is characterized by the selective loss of the upper and lower motor neurons. At the sites of motor neuron injury, accumulation of activated microglia, the primary immune cells of the central nervous system, is commonly observed in both human post mortem studies and animal mode...
Cell senescence in neuropathology: A focus on neurodegeneration and tumours.
Published in Neuropathology and applied neurobiology
The study of cell senescence is a burgeoning field. Senescent cells can modify the cellular microenvironment through the secretion of a plethora of biologically active products referred to as the senescence-associated secretory phenotype (SASP). The consequences of these paracrine signals can be either beneficial for tissue homeostasis, if senescen...
Effects of mutant huntingtin inactivation on Huntington disease-related behaviours in the BACHD mouse model.
Published in Neuropathology and applied neurobiology
Huntington disease (HD) is a fatal neurodegenerative disorder with no disease-modifying treatments approved so far. Ongoing clinical trials are attempting to reduce huntingtin (HTT) expression in the central nervous system (CNS) using different strategies. Yet, the distribution and timing of HTT-lowering therapies required for a beneficial clinical...
Intracerebral endotheliitis and microbleeds are neuropathological features of COVID-19.
...Published in Neuropathology and applied neurobiology
Coronavirus disease 19 (COVID-19) is a rapidly evolving pandemic caused by the coronavirus Sars-CoV-2. Clinically manifest central nervous system symptoms have been described in COVID-19 patients and could be the consequence of commonly associated vascular pathology, but the detailed neuropathological sequelae remain largely unknown. A total of six...
Invited Review - A 5-year update on epigenome-wide association studies of DNA modifications in Alzheimer's disease: prog...
Published in Neuropathology and applied neurobiology
In late 2014, the first epigenome-wide association studies of DNA modifications in Alzheimer's disease brain samples were published. Over the last 5 years, further studies have been reported in the field and have highlighted consistent and robust alterations in DNA modifications in AD cortex. However, there are some caveats associated with the majo...
Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter ...
Published in Neuropathology and applied neurobiology
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic-pattern immunolabelling, which has been interpreted as a reflection of activation-state variability. We aimed to study post mortem MeCP2 and BDNF (Me...
Concomitant LATE-NC in Alzheimer's disease is not associated with increased tau or amyloid-β pathological burden.
Published in Neuropathology and applied neurobiology
Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) is present in approximately 50% of Alzheimer's disease (AD) cases and is associated with accelerated cognitive decline. Studies indicate a potential synergistic relationship between LATE-NC and hyperphosphorylated tau. It is unknown if LATE-NC is an independent ...
White matter alterations in Alzheimer's disease without concomitant pathologies.
Published in Neuropathology and applied neurobiology
Most individuals with AD neuropathological changes have co-morbidities which have an impact on the integrity of the WM. This study analyses oligodendrocyte and myelin markers in the frontal WM in a series of AD cases without clinical or pathological co-morbidities. From a consecutive autopsy series, 206 cases had neuropathological changes of AD; am...
