A5036681718- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- Neurological disorders and treatments
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Myasthenia Gravis and Thymoma
- Inflammatory Myopathies and Dermatomyositis
- Botulinum Toxin and Related Neurological Disorders
- Functional Brain Connectivity Studies
- Dysphagia Assessment and Management
- Peripheral Nerve Disorders
- Advanced Neuroimaging Techniques and Applications
- Voice and Speech Disorders
- Eosinophilic Disorders and Syndromes
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Vasculitis and related conditions
- Advanced MRI Techniques and Applications
Nagoya University
2016-2025
Nagoya University Hospital
2008-2024
Nagoya Kyouritsu Hospital
2024
Oxford Centre for Computational Neuroscience
2024
University of Oxford
2024
MIND Research Institute
2020-2024
Centre for Life
2023
Newcastle University
2023
Johns Hopkins University
2023
Hamamatsu University School of Medicine
2022
We assessed the clinicopathological features of 92 patients with primary Sjögren's syndrome-associated neuropathy (76 women, 16 men, 54.7 years, age at onset). The majority (93%) were diagnosed syndrome after neuropathic symptoms appeared. classified these into seven forms neuropathy: sensory ataxic (n = 36), painful without ataxia 18), multiple mononeuropathy 11), cranial 5), trigeminal 15), autonomic 3) and radiculoneuropathy 4), based on predominant symptoms. Acute or subacute onset was...
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...
Cytoplasmic TDP-43 aggregation is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Here we investigated the role exosomes in secretion propagation aggregates. was detected secreted from Neuro2a cells primary neurons but not astrocytes or microglia. Evidence presented that protein autophagy inhibition are factors promote exosomal TDP-43. We also report levels full length C-terminal fragment species upregulated human brains. Exposure to brain,...
<h3>Objective</h3> To investigate the morphological features of chronic inflammatory demyelinating polyneuropathy (CIDP) with autoantibodies directed against paranodal junctional molecules, particularly focusing on fine structures paranodes. <h3>Methods</h3> We assessed sural nerve biopsy specimens obtained from 9 patients CIDP anti-neurofascin-155 antibodies and 1 patient anti-contactin-1 antibodies. 13 without these were also examined to compare pathological findings. <h3>Results</h3>...
Neuroinflammation, which includes both neuroprotective and neurotoxic reactions by activated glial cells infiltrated immune cells, is involved in the pathomechanism of amyotrophic lateral sclerosis (ALS). However, cytokines that regulate inflammatory response ALS are not clear. Here, we identify transforming growth factor-β1 (TGF-β1), upregulated astrocytes murine human ALS, as a negative regulator response. We demonstrate astrocyte-specific overproduction TGF-β1 SOD1G93A mice accelerates...
BackgroundGeneralized myasthenia gravis (gMG) is a rare, chronic, and debilitating autoimmune disease. Activation of the complement system by autoantibodies against postsynaptic acetylcholine receptor (AChR) leads to destruction membrane disruption neuromuscular transmission. This trial evaluated ravulizumab, long-acting inhibitor terminal protein C5, as treatment for gMG.MethodsIn this randomized, double-blind, placebo-controlled, multinational trial, we randomly assigned (1:1) patients...
To elucidate the relevance of gut dysbiosis in Parkinson's disease (PD) progression, we made random forest models to predict progression PD two years by microbiota 165 patients. The area under receiver operating characteristic curves (AUROCs) microbiota-based for Hoehn & Yahr (HY) stages 1 and 2 were 0.799 0.705, respectively. Similarly, predicted Movement Disorder Society-Unified Disease Rating Scale (MDS-UPDRS) III scores an early stage with AUROC = 0.728. Decreases short-chain fatty...
Abstract Introduction Ravulizumab demonstrated efficacy and an acceptable safety profile versus placebo in the randomized controlled period (RCP) of phase 3 CHAMPION MG trial patients with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis. We report interim analysis ongoing open-label extension (OLE) designed to evaluate long-term treatment effects. Methods Following completion 26-week RCP, could enter OLE; who received ravulizumab RCP continued drug; previously...
Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease caused by the expansion of polyglutamine (polyQ) tract within androgen receptor (AR). The nuclear inclusions consisting mutant AR protein are characteristic combine with many components ubiquitin–proteasome molecular chaperone pathways, raising possibility that misfolding altered degradation may be involved in pathogenesis. We have reported overexpression heat shock (HSP) chaperones reduces aggregation cell death...
Abstract The causative pathomechanism of sporadic amyotrophic lateral sclerosis (ALS) is not clearly understood. Using microarray technology combined with laser‐captured microdissection, gene expression profiles degenerating spinal motor neurons isolated from autopsied patients ALS were examined. Gene was quantitatively assessed by real‐time reverse transcription polymerase chain reaction and in situ hybridization. Spinal showed a distinct profile the whole ventral horn. Three percent genes...
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease caused by the expansion of a trinucleotide CAG repeat encoding polyglutamine tract in first exon androgen receptor gene ( AR ). The pathogenic, polyglutamine-expanded protein accumulates cell nucleus ligand-dependent manner inhibits transcription interfering with transcriptional factors coactivators. Heat-shock proteins (HSPs) are stress-induced chaperones that facilitate refolding and, thus, degradation...
FUS is an RNA-binding protein that regulates transcription, alternative splicing and mRNA transport. Aberrations of are causally associated with familial sporadic ALS/FTLD. We analyzed FUS-mediated transcriptions events in mouse primary cortical neurons using exon arrays. also characterized FUS-binding RNA sites the cerebrum HITS-CLIP. found tend to form stable secondary structures. Analysis position-dependence disclosed scattered binding around alternatively spliced exons including those...
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative characterized by eosinophilic hyaline inclusions in neuronal and somatic cells. Because of the variety clinical manifestations, antemortem diagnosis NIID difficult.Seven skin biopsy samples from patients with familial were evaluated histochemically, results compared those normal control subjects other neurologic diseases. We also examined electron microscopy.In samples, observed adipocytes, fibroblasts, sweat...
Amyotrophic lateral sclerosis is a devastating, progressive neurodegenerative disease that affects upper and lower motor neurons. Although several genes are identified as the cause of familial cases, pathogeneses sporadic forms, which account for 90% amyotrophic sclerosis, have not been elucidated. Transactive response DNA-binding protein 43 nuclear regulating RNA processing, redistributes to cytoplasm forms aggregates, histopathological hallmark in affected neurons, suggesting...
Mutations in the Cu/Zn-superoxide dismutase (SOD1) gene cause familial amyotrophic lateral sclerosis (ALS) through gain of a toxic function; however, nature this function remains largely unknown. Ubiquitylated aggregates mutant SOD1 proteins affected brain lesions are pathological hallmarks disease and suggested to be involved several proposed mechanisms motor neuron death. Recent studies suggest that readily forms an incorrect disulfide bond upon mild oxidative stress vitro, insoluble...
Amyloid-β peptide (Aβ) plays an important role in the pathogenesis of Alzheimer's disease (AD). Aβ is generated by proteolysis β-amyloid precursor protein (APP) and cleared enzyme-mediated degradation phagocytosis microglia astrocytes. Some cytokines, such as TGF-β1, stimulate this phagocytosis. In contrast, cellular upregulation HSP70 expression provides cytoprotection against Aβ. activity relation to inhibition oligomerization stimulation has also been reported. Although these vitro...
Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of polyglutamine tract in androgen receptor (AR). Animal studies have shown that pathogenesis SBMA dependent on serum testosterone level. This study aimed at evaluating efficacy safety deprivation leuprorelin acetate patients with SBMA.Fifty underwent subcutaneous injections or placebo randomized, placebo-controlled trial for 48 weeks, followed an open-label additional 96 which 19 group 15...
Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease caused by the expansion of a polyglutamine tract within androgen receptor (AR). The pathologic features SBMA are loss in spinal cord brainstem diffuse nuclear accumulation inclusions mutant AR residual neurons certain visceral organs. Many components ubiquitin-proteasome molecular chaperones also sequestered inclusions, suggesting that they may be actively engaged attempt to degrade or refold AR. C terminus Hsc70...