A5063911964- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Alcoholism and Thiamine Deficiency
- Amyotrophic Lateral Sclerosis Research
- Trace Elements in Health
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Neurological and metabolic disorders
- RNA regulation and disease
- Medical Imaging Techniques and Applications
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Advanced Neuroimaging Techniques and Applications
- Glioma Diagnosis and Treatment
- Advanced MRI Techniques and Applications
- Dementia and Cognitive Impairment Research
- Intracerebral and Subarachnoid Hemorrhage Research
- Cerebrovascular and genetic disorders
- Botulinum Toxin and Related Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Metabolism and Genetic Disorders
- Gastric Cancer Management and Outcomes
- Neurogenetic and Muscular Disorders Research
Aichi Medical University
2016-2025
Showa University
2024
Nagoya University
2003-2021
Hiroshima International University
2021
National Hospital Organization
2021
Kure Medical Center
2021
Nantan General Hospital
2015-2019
Kyoto Medical Center
2019
Matsumoto City Hospital
2015
Yashoda Hospital
2010-2012
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative characterized by eosinophilic hyaline inclusions in the central and peripheral nervous system, also visceral organs. NIID has been considered to be heterogeneous because of highly variable clinical manifestations, ante-mortem diagnosis difficult. However, since we reported usefulness skin biopsy for NIID, number diagnoses increased, particular adult-onset NIID. In this study, studied 57 cases described...
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative characterized by the presence of inclusions unknown origin. NIID caused an expansion GGC repeats in 5′ UTR NOTCH2NLC (N2C) gene. We found that these are embedded small upstream open reading frame (uORF) (uN2C), resulting their translation into polyglycine-containing protein, uN2CpolyG. This protein accumulates cell and mouse models tissue samples individuals with NIID. Furthermore, expression uN2CpolyG mice leads to...
Introduction The definitive diagnosis of genetic prion diseases (gPrD) requires pathological confirmation. To date, has relied upon the finding biomarkers 14-3-3 protein and total tau (t-tau) in cerebrospinal fluid (CSF), but many researchers have reported that these markers are not sufficiently elevated gPrD, especially Gerstmann-Sträussler-Scheinker syndrome (GSS). We recently developed a new vitro amplification technology, designated "real-time quaking-induced conversion (RT-QUIC)", to...
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 repetitive head impacts or exposure to blast waves, period. As CTE, the neurofibrillary changes SSPE are concentrated superficial cortical layers. Here we used electron cryo-microscopy (cryo-EM) tau filaments from two cases show that folds and CTE identical. Two types were each made...
To report the findings of sequential magnetic resonance (MR) imaging in hypoxic encephalopathy.Three women and three men underwent repeated MR studies. Sequential changes signal intensity morphologic features brain were evaluated.Involvement watershed zones parietooccipitotemporal cortex was more frequent severe than that basal ganglia, thalami, hippocampus, pons, cerebellum. Cerebral edema seen acute stage. Enhanced T1-weighted images showed cortical laminar enhancement early subacute...
Objective Progressive muscular atrophy (PMA) is a clinical diagnosis characterised by progressive lower motor neuron (LMN) symptoms/signs with sporadic adult onset. It unclear whether PMA simply phenotype of amyotrophic lateral sclerosis (ALS) in which upper (UMN) signs are undetectable. To elucidate the clinicopathological features patients clinically diagnosed PMA, we studied consecutive autopsied cases. Design Retrospective, observational. Setting Autopsied patients. Participants We...
The prion-like seeding of misfolded α-synuclein (αSyn) involved in the pathogenesis Lewy body diseases (LBD) remains poorly understood at molecular level. Using real-time quaking-induced conversion (RT-QUIC) assay, we investigated whether brain tissues from cases dementia with bodies (DLB), which contain serine 129 (Ser129)-phosphorylated insoluble aggregates αSyn, can convert Escherichia coli-derived recombinant αSyn (r-αSyn) to fibrils. Diffuse neocortical DLB yielded 50% dose (SD50)...
TDP-43 is mislocalized from the nucleus and aggregates within cytoplasm of affected neurons in cases amyotrophic lateral sclerosis. pathology has also been found brain tissues under non-amyotrophic sclerosis conditions, suggesting mechanistic links between TDP-43-related various neurological disorders. This study aimed to assess spinal cord motor tauopathies. We examined 106 cords consecutively autopsied with progressive supranuclear palsy (n = 26), corticobasal degeneration 12), globular...
Due to the indistinguishable clinical features of corticobasal syndrome (CBS), antemortem differentiation between degeneration (CBD) and its mimics remains challenging. However, utility conventional magnetic resonance imaging (MRI) for diagnosis CBD has not been sufficiently evaluated. This study aimed investigate diagnostic performance MRI findings in differentiating pathologically confirmed from mimics.
Fatal familial insomnia is a genetic prion disease, which associated with the aspartic acid to asparagine substitution at codon 178 of protein gene. Although hallmark pathological feature thalamic and olivary degeneration, there patient an atypical fatal without feature. The cause variability unclear. We analysed Japanese kindred compared one clinicopathological phenotype case typical cases transmission studies using multiple lines knock-in mice misfolding cyclic amplification. also...
Abstract Background Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the similarity in their clinical radiological features. It is unclear that skin biopsy can distinguish NIID from FXTAS. We performed a an FXTAS case with cognitive dysfunction peripheral neuropathy without tremor, which was initially suspected to be NIID....
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 reported in brain tissue of cases, there few reports which this amply discussed. Five autopsied diagnosed as definite were included study. The subject age or disease duration ranged from 7.6 40.9 years old 0.5 20.8 years, respectively. Cases 3...
While amyloid-β lies upstream of tau pathology in Alzheimer’s disease, key drivers for other tauopathies, including progressive supranuclear palsy (PSP), are largely unknown. Various mutations known to facilitate aggregation, but how the nonmutated tau, which most cases with PSP share, increases its propensity aggregate neurons and glial cells has remained elusive. Here, we identified genetic variations protein abundance filamin-A brains without mutations. We provided vivo biochemical...
Abstract The clinical presentation of corticobasal degeneration is diverse, while the background pathology syndrome also heterogeneous. Therefore, predicting pathological extremely difficult. Herein, we investigated findings and course in patients with pathologically, genetically biochemically verified to determine suggestive disorder. Thirty-two were identified as having degeneration. median intervals from initial symptoms onset key milestones follows: gait disturbance, 0.0 year;...
Tau PET tracers are expected to be sufficiently sensitive track the progression of age-related tau pathology in medial temporal cortex. The tracer <i>N</i>-(4-[<sup>18</sup>F]fluoro-5-methylpyridin-2-yl)-7-aminoimidazo[1,2-a]pyridine ([<sup>18</sup>F]SNFT-1) has been successfully developed by optimizing imidazo[1,2-a]pyridine derivatives. We characterized binding properties [<sup>18</sup>F]SNFT-1 using a head-to-head comparison with other reported <sup>18</sup>F-labeled tracers....
Abstract Background : The involvement of neutrophil‐mediated inflammation may play an important role in the pathogenesis acute respitory syncytial virus bronchiolitis. However, no measurable marker is sensitive enough to assess airways. Released neutrophil elastase (NE) intraluminal airways has been reported induce pulmonary inflammation. aim this study was determine whether amount urinary trypsin inhibitor (UTI) serum, a degenerate induced by NE, reflects degree airway children with...