Association of rare missense variants with Alzheimer's disease in the Japanese population.

BackgroundLittle is known about the rare missense variants (RMVs) of in East Asians, including the Japanese, and their association with Alzheimer's disease (AD) and lipid metabolism.ObjectiveTo identify RMVs in the Japanese population and investigate their association with AD and lipid metabolism, including low-density lipoprotein cholesterol levels.Methods RMVs were explored in the Niigata (NIG; 2589 subjects) and Tohoku (ToMMo; 3307 subjects) cohorts.

An Autopsy Case of Varicella-zoster Virus Uveitis Progressing to Vasculopathy with Multiple Cerebral Infarctions.

We herein report an autopsy case of multiple cerebral infarctions caused by varicella-zoster virus (VZV) vasculopathy. A 60-year-old man, previously diagnosed with VZV uveitis, subsequently developed cerebral infarction with multiple cerebral vessel stenoses. Based on the results of a polymerase chain reaction test of cerebrospinal fluid, the patient was diagnosed with VZV vasculopathy.

Prion Positivity Detected by Real-Time Quaking-Induced Conversion (RT-QuIC) in the Cadaver of an Elderly Woman Subjected to Forensic Autopsy.

Prion diseases are fatal neurodegenerative disorders. Previous studies have indicated the presence of "prion carriers" who remain asymptomatic, but scrapie prion protein (PrP) has begun to accumulate in the brain. Indeed, we identified an undiagnosed case of prion disease in a cadaver used for the anatomical practice of medical students.

Hippocampal sclerosis in senile dementia of the neurofibrillary tangle type.

Introduction: Senile dementia of the neurofibrillary tangle type (SD-NFT) is a subset of dementia in elderly individuals. Recent studies have reported a correlation between hippocampal sclerosis (HS) and aging. This study aimed to investigate the relationship between HS and SD-NFT.

Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare disease associated with the presence of anti-glycine receptor (GlyR) antibodies. We herein report an autopsy case of an 80-year-old man diagnosed with anti-GlyR antibody-positive PERM who presented with symptoms of oculomotor dysfunction and autonomic failure. Despite intensive immunotherapy, the neurological symptoms showed almost no improvement, and the patient succumbed to aspiration pneumonia and bacterial translocation.

Hypertrophy of the inferior olivary nucleus in corticobasal degeneration: A neuropathological study.

Aims: Corticobasal degeneration (CBD) is a rare neurodegenerative disorder. The status of the inferior olivary nucleus (ION) in CBD has been inadequately investigated. In this study, we conducted a pathological investigation of the ION in CBD.

Correlation between clinical and neuropathological subtypes of progressive supranuclear palsy.

Introduction: Progressive supranuclear palsy (PSP) is characterized by pathology prominently in the basal ganglia, the tegmentum of the brainstem, and the frontal cortex. However, pathology varies according to clinical features. This study aimed to statistically verify the correspondence between the clinical and pathological subtypes of PSP.

Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract.

Multiple system atrophy (MSA) is an adult-onset neurodegenerative disorder that presents with variable combinations of autonomic dysfunction, cerebellar ataxia, parkinsonism, and pyramidal signs. The inferior olivary nucleus is targeted in MSA, with a phenotype of olivopontocerebellar atrophy in particular, and involvement of the olivocerebellar tract is well known. However, degeneration of the olivospinal tract has not been studied in MSA.

Nuclear Expression of TDP-43 Is Linked with Morphology and Ubiquitylation of Cytoplasmic Aggregates in Amyotrophic Lateral Sclerosis.

The transactive response DNA-binding protein of 43 kDa (TDP-43) is a pathological protein of amyotrophic lateral sclerosis (ALS). TDP-43 pathology is characterized by a combination of the cytoplasmic aggregation and nuclear clearance of this protein. However, the mechanisms underlying TDP-43 pathology have not been fully clarified.

Identical tau filaments in subacute sclerosing panencephalitis and chronic traumatic encephalopathy.

Subacute sclerosing panencephalitis (SSPE) occurs in some individuals after measles infection, following a symptom-free period of several years. It resembles chronic traumatic encephalopathy (CTE), which happens after repetitive head impacts or exposure to blast waves, following a symptom-free period. As in CTE, the neurofibrillary changes of SSPE are concentrated in superficial cortical layers.

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.

The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and NOTCH2NLC GGC repeat analysis.

Clinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.

Progressive supranuclear palsy (PSP) can be diagnosed despite the presence of asymmetrical parkinsonism depending on the clinical diagnostic criteria. Some studies have reported that atrophy of the superior cerebellar peduncle (SCP) is more frequent in PSP than in Parkinson's disease. There have also been reports of PSP cases with an asymmetrically atrophic SCP.

Age-related increase of monoamine oxidase B in amyloid-negative cognitively unimpaired elderly subjects.

Objective: Monoamine oxidase B (MAO-B) is highly abundant in reactive astrocytes and upregulated in neuroinflammatory processes. However, the age-related change of MAO-B in amyloid-negative cognitively unimpaired elderly subjects has not yet been sufficiently evaluated on positron emission tomography (PET). F-THK5351 is a radiotracer with high affinity to MAO-B, which may potentially serve as an imaging biomarker for detecting neuroinflammation.

Neurolymphomatosis in follicular lymphoma: an autopsy case report.

Neurolymphomatosis is a neurological manifestation of lymphoma that involves the cranial or spinal peripheral nerves, nerve roots, and plexus with direct invasion of neoplastic cells. Neurolymphomatosis is rare among patients with low-grade lymphoma. We report an autopsied case of neurolymphomatosis that arose from follicular lymphoma.

An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings.

In Japan, because MV2-type sporadic Creutzfeldt-Jakob disease (CJD) is rare, little is known about its clinical and neuropathological characteristics. An autopsy case of MV2K-type sporadic CJD is presented, and the characteristic clinical, radiological, and neuropathological findings are discussed. The patient was a Japanese woman who died at the age of 72 years.

Independent distribution between tauopathy secondary to subacute sclerotic panencephalitis and measles virus: An immunohistochemical analysis in autopsy cases including cases treated with aggressive antiviral therapies.

Subacute sclerotic panencephalitis (SSPE) is a refractory neurological disorder after exposure to measles virus. Recently, SSPE cases have been treated with antiviral therapies, but data on the efficacy are inconclusive. Abnormal tau accumulation has been reported in the brain tissue of SSPE cases, but there are few reports in which this is amply discussed.