A5025241935- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- RNA regulation and disease
- Pharmacovigilance and Adverse Drug Reactions
- Epigenetics and DNA Methylation
- Neurological and metabolic disorders
- Data-Driven Disease Surveillance
- Dementia and Cognitive Impairment Research
- Genetics, Aging, and Longevity in Model Organisms
- Epilepsy research and treatment
- Neurological Disease Mechanisms and Treatments
- Balance, Gait, and Falls Prevention
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Influenza Virus Research Studies
- BRCA gene mutations in cancer
- COVID-19 epidemiological studies
- RNA modifications and cancer
- Functional Brain Connectivity Studies
- Neuroscience and Neuropharmacology Research
- Neurological Complications and Syndromes
- Neurosurgical Procedures and Complications
- Drug-Induced Ocular Toxicity
The University of Tokyo
2016-2025
National Center of Neurology and Psychiatry
2023-2024
University of Tokyo Hospital
2017-2022
Yokohama Rosai Hospital
2013-2020
NTT Medical Center
2016
Osaka City General Hospital
2007
Osaka Prefectural Medical Center
2007
Gait movies recorded in daily clinical practice are usually not filmed with specific devices, which prevents neurologists benefitting from leveraging gait analysis technologies. Here we propose a novel unsupervised approach to quantifying features and extract cadence normal parkinsonian home video camera by applying OpenPose, deep learning-based 2D-pose estimator that can obtain joint coordinates pictures or videos monocular camera.Our proposed method consisted of two distinct phases:...
Facial nerve palsy (or Bell's palsy) has occasionally been reported following the administration of coronavirus disease 2019 (COVID-19) mRNA vaccines (BNT162b2 and mRNA-1273). Our study investigated such cases using a large self-reporting database from USA (Vaccine Adverse Event Reporting System [VAERS]).A disproportionality analysis, adjusted for age sex, was conducted VAERS reports individuals who were vaccinated at 18 years or over, between January 2010 April 2021.The analysis revealed...
Significance To extract critical information from Alzheimer’s disease (AD) postmortem brains that may otherwise be lost, we chose to screen epigenetic signatures. Epigenome analysis is a robust methodology in terms of its cell type and gene specificity, suitability for high-throughput analysis, resistance degradation. Analysis the neuron-specific methylome revealed variety differentially methylated genes, including BRCA1 . We demonstrate pathogenic relevance compromised genomic integrity by...
In late March and early April 2020, the antimalarial drug, chloroquine, has been approved as an emergency treatment for coronavirus disease 2019 (COVID-19) in United States Europe. Although infrequent, neuropsychiatric symptoms have reported patients who received chloroquine of malaria or autoimmune diseases. this study, aiming to investigate these adverse events (AEs) using a large self-reporting database, we conducted disproportionality analysis detection AE signals associated with use (or...
Ca 2+ signaling plays important roles during both axonal and dendritic growth. Yet whether how rises may trigger contribute to the development of long-range cortical connections remains mostly unknown. Here, we demonstrate that two separate limbs /calmodulin-dependent protein kinase (CaMKK)–CaMKI cascades, CaMKK–CaMKIα CaMKK–CaMKIγ, critically coordinate morphogenesis neurons, respectively. The axon-specific morphological phenotype required a diffuse cytoplasmic localization strikingly...
Google Trends (GT) is being used as an epidemiological tool to study coronavirus disease (COVID-19) by identifying keywords in search trends that are predictive for the COVID-19 burden. However, many of earlier GT-based studies include potential statistical fallacies measuring correlation between non-stationary time sequences without adjusting multiple comparisons or confounding media coverage, leading concerns about increased risk obtaining false-positive results. In this study, we aimed...
Abstract Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1 , exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report rare in-frame deletion c.1469_71delTGG (p.Val490del) man with AMN. Although this variant has been interpreted as ‘uncertain significance’ ClinVar, biochemical analysis along clinical evaluation confirmed the pathogenicity variant, underscoring importance...
Introduction The Clock-Drawing Test (CDT) is a simple cognitive tool to examine multiple domains of cognition including executive function. We aimed build CDT-based deep neural network (DNN) model using data from large cohort older adults, automatically detect decline, and explore its potential as mass screening tool. Methods Over 40,000 CDT images were obtained the National Health Aging Trends Study (NHATS) database, which collects annual surveys nationally representative community-dwelling...
Abstract Epidemiological studies have shown that atherosclerotic risk factors accelerate the pathological process underlying Alzheimer’s disease (AD) via chronic cerebral hypoperfusion. In this study, we aimed to clarify mechanisms by which hypoperfusion may exacerbate AD pathology. We applied bilateral common carotid artery stenosis (BCAS) a mice model of and evaluated how equilibrium amyloid β oligomers respond BCAS accelerated (Aβ) convergence aggregation seed, facilitating growth Aβ...
Abstract Alzheimer’s disease is characterized by cognitive impairment and progressive brain atrophy. Recent human neuroimaging studies reported atypical anatomical functional changes in some regions the default mode network patients with disease, but which area of key region whose atrophy disturbs entire activity consequently contributes to symptoms remains unidentified. Here, this case–control study, we aimed identify crucial neural that mediated phenotype as such, examined intrinsic...
To report the ocular characteristics of neuronal intranuclear inclusion disease (NIID)-related retinopathy with expansion CGG repeats in NOTCH2NLC gene.Seven patients from six families (aged 66-81 years) diagnosed adult-onset NIID were studied. Ophthalmologic examinations, including best-corrected visual acuity (BCVA), Goldmann perimetry, fundus photography, autofluorescence (FAF) imaging, optical coherence tomography (OCT), and full-field electroretinography (ERGs), performed. The gene was...
Abstract Amyloid-β (Aβ) accumulation in the brain triggers pathogenic cascade for Alzheimer’s disease (AD) development. The secretory protein FAM3C (also named ILEI) is a candidate an endogenous suppressor of Aβ production. In this study, we found that expression was transcriptionally downregulated AD brain. To determine transcriptional mechanism human gene, delineated minimal 5′-flanking sequence required basal promoter activity. From database search DNA-binding motifs, analysis using...
The mechanism of neuronal dysfunction via tau aggregation in tauopathy patients is controversial. In Alzheimer’s disease (AD), we previously reported mislocalization the DNA repair nuclear protein BRCA1, its coaggregation with tau, and possible importance subsequent dysfunction. However, whether this BRCA1 also occurs other tauopathies unknown. aim study was to evaluate colocalizes aggregates cytoplasm brains tauopathy. We evaluated four AD, two Pick’s (PiD), three progressive supranuclear...
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies still for confirming exact features. We herein report case of patient who received an antemortem diagnosis familial NIID dementia-dominant phenotype that was later confirmed by autopsy. Our first document autopsy-confirmed involving both cognitive...
Background:Effect of serum calcium level to the incidence mild cognitive impairment (MCI) conversion early Alzheimer's disease (AD) remains uncertain. Objective:To investigate association between baseline and MCI in Japanese Disease Neuroimaging In itiative (J-ADNI) study cohort. Methods:In this sub-analysis J-ADNI study, we reviewed data from participants at regarding their AD during 3 years observation period assessed associated factors including level. addition, compared our results with...
Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene represents subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity pathological hallmark. We herein report 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy atrioventricular block at 9 years old developed weakness soft palate extremities. The myocardial tissue dissected during implantation ventricular-assisted...
Histone deacetylases (HDACs) are potential therapeutic targets of polyglutamine (pQ) diseases including Huntington's disease (HD) that may function to correct aberrant transcriptional deactivation caused by mutant pQ proteins. HDAC3 is a unique class 1 HDAC found in both the cytoplasm and nucleus. However, precise functions two cellular compartments only vaguely known. directly binds huntingtin (Htt) with short this interaction important for suppressing neurotoxicity induced HDAC3. With long...
Abstract Objective Gait movies recorded in daily clinical practice are usually not filmed with specific devices, which prevents neurologists benefitting from leveraging gait analysis technologies. Here we propose a novel unsupervised approach to quantifying features and extract cadence normal parkinsonian home video camera by applying OpenPose, deep learning–based 2D-pose estimator that can obtain joint coordinates pictures or videos monocular camera. Methods Our proposed method consisted of...
Abstract Volume depletion as an adverse events (AE) caused by sodium‐glucose cotransporter‐2 inhibitors (SGLT2i) because of their diuretic effect may raise the concern about risk lacunar stroke; however, earlier meta‐analysis reported no significant increase in incidence stroke without clearly distinguishing subtypes. Here, aiming to investigate subtype‐wise reporting potentially related SGLT2i treatment, we conducted a disproportionality analysis using Japanese Adverse Drug Event Report...
We aimed to identify modularized structural atrophy of brain regions with a high degree connectivity and its longitudinal changes associated the progression Alzheimer's disease (AD) using weighted gene co-expression network analysis (WGCNA), which is an unsupervised hierarchical clustering method originally used in genetic analysis. included participants late mild cognitive impairment (MCI) at baseline from Japanese Disease Neuroimaging Initiative (J-ADNI) study. imputed normalized...