An autopsy case of MV 2K + C subtype of Creutzfeldt-Jakob disease.

Methionine/valine (MV) 2 type of sporadic Creutzfeldt-Jakob (sCJD) is divided into three subtypes based on neuropathological criteria: MV2-kuru (MV2K), MV2-cortical (MV2C), and MV2K + C, exhibiting the co-occurrence of these two pathological features. We report an autopsy case of MV2K + C subtype of sCJD. A 46-year-old Japanese man began to make mistakes at work.

An autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129.

The typical clinical manifestations of sporadic Creutzfeldt-Jakob disease (sCJD) are rapid-progressive dementia and myoclonus. However, the diagnosis of atypical sCJD can be challenging due to its wide phenotypic variations. We report an autopsy case of variably protease-sensitive prionopathy (VPSPr) with Met/Met homogeneity at codon 129.

Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low-power view findings.

Spinocerebellar degenerations (SCDs) are a diverse group of rare and slowly progressive neurological diseases that include spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and multiple system atrophy (MSA). They are often inherited, and affect the cerebellum and related pathways. The combination of clinical findings and lesion distribution has been the gold-standard for classifying SCDs.

Electron microscopic study of the median structure of the posterior column of the spinal cord of the adult rat with a special reference to the posterior median septum.

In neuroanatomy textbooks on humans, the posterior median septum is commonly depicted along the midline of the posterior column of the spinal cord. For intramedullary spinal cord tumors, the standard surgical treatment is posterior midline myelotomy. However, its anatomical basis is still unclear.

A novel form of necrosis, TRIAD, occurs in human Huntington's disease.

We previously reported transcriptional repression-induced atypical cell death of neuron (TRIAD), a new type of necrosis that is mainly regulated by Hippo pathway signaling and distinct from necroptosis regulated by RIP1/3 pathway. Here, we examined the ultrastructural and biochemical features of neuronal cell death in the brains of human HD patients in parallel with the similar analyses using mutant Htt-knock-in (Htt-KI) mice. LATS1 kinase, the critical regulator and marker of TRIAD, is actually activated in cortical neurons of postmortem human HD and of Htt-KI mouse brains, while apoptosis promoter kinase Plk1 was inactivated in human HD brains.

Oriented collagen tubes combined with basic fibroblast growth factor promote peripheral nerve regeneration in a 15 mm sciatic nerve defect rat model.

We developed a new scaffold material-oriented collagen tubes (OCT)-and evaluated the potential of OCTs combined with basic fibroblast growth factor (bFGF) to repair of a 15 mm sciatic nerve defect in rats. The treatment groups consisted of OCT with adsorbed bFGF (OCT/bFGF group), OCT in phosphate-buffered saline (PBS) (OCT/PBS group), and a no-treatment group (Defect group). Functional evaluation of nerve regeneration was performed using the CatWalk system, and histological analyses of the defect sites were also performed.

Immunohistochemical characterization of CD33 expression on microglia in Nasu-Hakola disease brains.

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by formation of multifocal bone cysts and development of leukoencephalopathy, caused by genetic mutations of either DNAX-activation protein 12 (DAP12) or triggering receptor expressed on myeloid cells 2 (TREM2). Although increasing evidence suggests a defect in microglial TREM2/DAP12 function in NHD, the molecular mechanism underlying leukoencephalopathy with relevance to microglial dysfunction remains unknown. TREM2, by transmitting signals via the immunoreceptor tyrosine-based activation motif (ITAM) of DAP12, stimulates phagocytic activity of microglia, and ITAM signaling is counterbalanced by sialic acid-binding immunoglobulin (Ig)-like lectins (Siglecs)-mediated immunoreceptor tyrosine-based inhibitory motif (ITIM) signaling.

Pathological characteristics of cyst formation following gamma knife surgery for arteriovenous malformation.

Background: The pathological characteristics of cyst development after gamma knife surgery (GKS) for arteriovenous malformation (AVM) were analysed.

Method: Sixteen male and 12 female patients aged 17-67 years (mean 31.3 years) were retrospectively identified among 868 patients who underwent GKS for AVM at our hospital.

LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains.

Background: Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, dendritic cells, macrophages, and microglia. Neuropathologically, NHD exhibits profound loss of myelin and accumulation of axonal spheroids, accompanied by intense gliosis accentuated in the white matter of the frontal and temporal lobes.

Neuropathological staging of spinocerebellar ataxia type 2 by semiquantitative 1C2-positive neuron typing. Nuclear translocation of cytoplasmic 1C2 underlies disease progression of spinocerebellar ataxia type 2.

Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by the expansion of the trinucleotide CAG repeats encoding elongated polyglutamine tract in ataxin-2, the SCA2 gene product. Polyglutamine diseases comprise nine genetic entities, including seven different forms of spinocerebellar ataxias, Huntington's disease, and spinal and bulbar muscular atrophy. These are pathologically characterized by neuronal loss and intranuclear aggregates or inclusions of mutant proteins including expanded polyglutamine in selected neuronal groups.

Late onset GM2 gangliosidosis presenting with motor neuron disease: an autopsy case.

Adult-onset GM2 gangliosidosis is very rare and only three autopsy cases have been reported up to now. We report herein an autopsy case of adult-onset GM2 gangliosidosis. The patient developed slowly progressive motor neuron disease-like symptoms after longstanding mood disorder and cognitive dysfunction.

Bergmann glia are reduced in spinocerebellar ataxia type 1.

Non-cell-autonomous pathology involving glial cells has been implicated in Purkinje cell degeneration. We reported previously that mutant ataxin-1, a causative gene product of spinocerebellar ataxia type 1 (SCA1), prevents Bergmann glia proliferation in mutant ataxin-1 knockin mice and that suppressed Bergmann glia function leads to Purkinje cell degeneration. However, because reactive astrocytes are produced in response to brain injuries and diseases, Bergmann glia are also suspected to proliferate and increase in response to Purkinje cell degeneration, including during SCA1 pathogenesis.

Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation.

It has been reported that abnormal processing of pre-mRNA is caused by abnormal triplet expansion. Non-coding triplet expansions produce toxic RNA to alter RNA splicing activities. However, there has been no report on the globular RNA aggregation in neuronal cytoplasmic inclusions (NCIs) up to now.

LRRK2 I2020T mutation is associated with tau pathology.

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of autosomal-dominant familial Parkinson's disease (FPD). The variable pathological features of LRRK2-linked FPD include Lewy bodies, degeneration of anterior horn cells associated with axonal spheroids, neurofibrillary tangles (NFTs) and TAR DNA-binding protein of 43 kDa (TDP-43) positive inclusion bodies. Furthermore, abnormal hyperphosphorylation of microtubule associated protein tau, in part generated by catalysis of protein kinases, has been reported to be involved in progressive neurodegeneration in a number of diseases, including FPD.

Intrathecally administered ropivacaine is less neurotoxic than procaine, bupivacaine, and levobupivacaine in a rat spinal model.

Purpose: The aim of this study was to compare the neurotoxicity of intrathecal procaine, bupivacaine, levobupivacaine, and ropivacaine in an animal model.

Methods: The study comprised two experiments. In the concentration experiment, rats (n = 78) were administered 0.

[Deep sylvian meningioma without dural attachment: a case report].

A 34-year-old female presented with an 8-year history of temporal lobe epilepsy. Magnetic resonance imaging showed a multilobular, well-demarcated and homogeneous tumorous lesion of 5 cm in diameter deep in the left sylvian fissure. Intraoperative findings revealed that the tumor was mainly in the left insular region without dural attachment and strongly adhered to the left middle cerebral artery and its perforators.

Phosphorylated Syk expression is enhanced in Nasu-Hakola disease brains.

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by a loss-of-function mutation of DNAX-activation protein 12 (DAP12) or triggering receptor expressed on myeloid cells 2 (TREM2). TREM2 and DAP12 constitute a receptor/adaptor complex on myeloid cells. The post-receptor signals are transmitted via rapid phosphorylation of the immunoreceptor tyrosine-based activating motif (ITAM) of DAP12, mediated by Src protein tyrosine kinases, followed by binding of phosphorylated ITAM to Src homology 2 (SH2) domains of spleen tyrosine kinase (Syk), resulting in autophosphorylation of the activation loop of Syk.

Perivascular orientation of astrocytic plaques and tuft-shaped astrocytes.

Astrocytic plaques (APs) and tuft-shaped astrocytes (TAs) are frequently found in the brains of patients with corticobasal degeneration or progressive supranuclear palsy and are considered histopathological markers of these clinicopathological entities. Possible involvement of blood vessels in these lesions, occasionally found in routine histological examination, was estimated by observing thick sections (50-100 μm). The relative distance between the center of each AP/TA to the nearest blood vessel was lesser than that between the nearest blood vessel and control random reference points, and this finding confirmed that APs/TAs are formed in close proximity to blood vessels.

Pleomorphic xanthoastrocytoma and moyamoya disease in a patient with neurofibromatosis type 1 - case report - .

A 32-year-old man with familial neurofibromatosis type 1 presented with a rare case of coexisting pleomorphic xanthoastrocytoma (PXA) and moyamoya disease manifesting as progressive right hemiparesis. Magnetic resonance (MR) imaging with gadolinium showed an enhanced mass lesion in the left basal ganglia extending to the left parietal lobe. Preoperative angiography showed severe stenosis of the bilateral internal carotid arteries, and moyamoya vessels.

Neurotoxicity of intrathecally administered fentanyl in a rat spinal model.

Objective: Intrathecally administered fentanyl rarely causes drug tolerance or formation of inflammatory masses and might therefore be a suitable treatment option for chronic pain. However, the neurotoxicity of intrathecally administered fentanyl remains to be clarified. We examined the histological changes, neurodysfunction, and side effects of intrathecal fentanyl in rats.

Chronic encapsulated intracerebral hematoma associated with cavernous angioma--case report.

An 80-year-old male presented with a chronic encapsulated intracerebral hematoma (CEIH) with surrounding edema under the right frontal lobe manifesting as slow exacerbation of disturbance of orientation and gait. He had a history of cerebral infarction with an asymptomatic cavernous angioma in the right frontal lobe. The CEIH was diagnosed as bleeding from the cavernous angioma, and surgical removal was performed.

Subependymal giant cell astrocytoma with oncocytic change.

A 49-year-old woman presented with a history of periodic episodes of nausea and vomiting starting in 2006. In June 2009, the patient lost consciousness and was transported to our hospital. Head computed tomography (CT) revealed hydrocephalus caused by an enhancing mass lesion with calcification located in the right lateral ventricle around the foramen of Monro.