[An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology].

We describe an autopsy case of spinal bulbar muscular atrophy (SBMA) concomitant with multiple system atrophy (MSA). A Japanese male patient developed gait disturbance in his twenties. His brother and niece also presented with similar clinical symptoms.

[An autopsy case of a 76-year-old woman with progressive supranuclear palsy initially presenting with dropped head and clinical features of pure akinesia with gait freezing].

We present a case of a 76-year-old woman diagnosed with pathologically confirmed progressive supranuclear palsy (PSP) with pallido-nigral-luysial atrophy, who initially presented with a dropped head. Upon her first visit, neurophysiological and neuroradiological examinations provided no definitive cause, and the tactile trick was effective, leading to a diagnosis of cervical dystonia. Trihexyphenidyl treatment had no effect, but her condition gradually improved over 3 years.

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.

Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings.

Objectives: To clarify the characteristics of Japanese patients with frontotemporal dementia (FTD), we have established a nationwide multicenter registry named the Frontiers of Time course and Living specimen registry and Disease-modifying therapy development in Japanese patients with FTLD (FTLD-J). To ensure diagnostic consistency, we implemented case review meetings in the registry and evaluated their utility.

Methods: Between February 2016 and August 2024, 269 patients with behavioral variant FTD (bvFTD), semantic dementia (SD), or progressive nonfluent aphasia (PNFA) were registered.

Identification of DAGLB variants in Japanese early-onset Parkinson's disease.

Hereditary factors play a significant role in the development of Parkinson's disease and the identification of causative genes is ongoing. Biallelic variants in Diacylglycerol lipase β (DAGLB) are related to early-onset Parkinson's disease (EOPD) in the Chinese population, and have also been identified in an Algerian case. To date, no EOPD cases with DAGLB variants have been reported among Japanese patients.

Validation of the neuropathological criteria of the fourth Consortium on dementia with Lewy Bodies in autopsy cases from psychiatric hospitals.

Aim: The pathological criteria from the fourth Consortium on Dementia With Lewy bodies (DLB) in psychiatric cohorts has not been validated. Also, the pathological differences in prodromal DLB subtypes remain unclear. This study aimed to elucidate the clinicopathological features of patients with DLB in psychiatric hospitals.

Maternal immune activation followed by peripubertal stress combinedly produce reactive microglia and confine cerebellar cognition.

The functional alteration of microglia arises in brains exposed to external stress during early development. Pathophysiological findings of neurodevelopmental disorders such as schizophrenia and autism spectrum disorder suggest cerebellar functional deficits. However, the link between stress-induced microglia reactivity and cerebellar dysfunction is missing.

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.

Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon.

Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.

Analysis and comparison of post-translational modifications of α-synuclein filaments in multiple system atrophy and dementia with Lewy bodies.

Our previous cryogenic electron microscopy (cryoEM) analysis showed that the core structures of α-synuclein filaments accumulated in brains of patients diagnosed with dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) patients are different. We analyzed the post-translational modifications (PTMs) in these filaments , and examined their relationship with the core filament structures and pathological features. Besides the common PTMs in MSA and DLB filaments, acetylation, methylation, oxidation and phosphorylation were frequently detected in MSA filaments, but not in DLB filaments.

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.

Primary familial brain calcification (PFBC) is a genetic neurological disorder characterized by symmetric brain calcifications that manifest with variable neurological symptoms. This study aimed to explore the genetic basis of PFBC and elucidate the underlying pathophysiological mechanisms. Six patients from four pedigrees with brain calcification were enrolled.

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.

Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques.

Background: The mutations in the presenilin 1 gene (PSEN1) are the main cause of familial Alzheimer's disease. PSEN1 mutations affect amyloid-beta peptide production, which accumulates in the brain as senile plaque and cotton wool plaques (CWPs) and relates to other neurodegenerative disorders. Here we report the second case of the PSEN1 G266S mutation, which showed distinctive neuropathological features, including abundant CWPs.

Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes.

Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC), a rare and complex neurological disorder, is predominantly observed in the Western Pacific islands, including regions of Japan, Guam, and Papua. This enigmatic condition continues to capture medical attention due to affected patients displaying symptoms that parallel those seen in either classical amyotrophic lateral sclerosis (ALS) or Parkinson's disease (PD). Distinctly, postmortem examinations of the brains of affected individuals have shown the presence of α-synuclein aggregates and TDP-43, which are hallmarks of PD and classical ALS, respectively.