A5044571635- Inflammatory Myopathies and Dermatomyositis
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Immunodeficiency and Autoimmune Disorders
- Nuclear Structure and Function
- RNA Research and Splicing
- Eosinophilic Disorders and Syndromes
- Neurogenetic and Muscular Disorders Research
- Peripheral Neuropathies and Disorders
- RNA regulation and disease
- Cardiomyopathy and Myosin Studies
- Skin Diseases and Diabetes
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Facial Nerve Paralysis Treatment and Research
- Myasthenia Gravis and Thymoma
- Soft tissue tumor case studies
- Chronic Lymphocytic Leukemia Research
- Parkinson's Disease and Spinal Disorders
- Genetic factors in colorectal cancer
- Multiple Sclerosis Research Studies
- Sarcoidosis and Beryllium Toxicity Research
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Alzheimer's disease research and treatments
The University of Tokyo
2016-2025
University of Tokyo Hospital
2018-2021
Bunkyo University
2020
Columbia University Irving Medical Center
2013-2018
National Defense Medical College
2016-2018
Tokyo Teishin Hospital
2016-2018
Mitsui Memorial Hospital
2016-2018
Fukushima Medical University
2018
Teikyo University
2018
Toranomon Hospital
2016-2017
<h3>Objective:</h3> To show cancer association is a risk factor other than statin exposure for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase autoantibody-positive (anti-HMGCR Ab+) myopathy. <h3>Methods:</h3> We analyzed the clinical features and courses of 33 patients (23 female 10 male) with anti-HMGCR Ab+ myopathy among 621 consecutive idiopathic inflammatory myopathies. <h3>Results:</h3> Among patients, 7 (21%) were statin-exposed 26 statin-naive. In relation cancer, there 12...
Aging is a significant risk factor for autoimmunity, and many autoimmune diseases tend to onset during adulthood. We conducted an extensive analysis of CD4
A proteoglycan was isolated from the human placenta by procedures including affinity chromatography with fibronectin immobilized on agarose.The glycosaminoglycan chains were found to be composed of heparan sulfate (86%) and dermatan (14%).The average molecular weights estimated 1.8 X 10' for 1.2 sulfate.Mouse monoclonal antibodies HS42 HS47 prepared against proteoglycan, examination specificity these indicated that they recognized core protein portion.The binding specificity, as studied...
Abstract Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene ( FTL1 ). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition brain. To date, five have been described Caucasian Japanese families, but genotype–phenotype correlations remain to be established. We identified novel mutation (exon 4, c.641/642, 4‐nucletotide duplication) family compared clinical traits with those previously...
In 2001, we reported linkage of an autosomal dominant form limb-girdle muscular dystrophy, dystrophy 1F, to chromosome 7q32.1-32.2, but the identity mutant gene was elusive. Here, using a whole genome sequencing strategy, identified causative mutation heterozygous single nucleotide deletion (c.2771del) in termination codon transportin 3 (TNPO3). This is situated within chromosomal region linked disease and encodes nuclear membrane protein belonging importin beta family. TNPO3 transports...
Infarctions of the posterior limb internal capsule (plIC) typically cause contralateral motor deficits. Cases with pure agraphia, writing impairments alone, are rare. We present a case agraphia as sole symptom after small infarction in anterior portion left plIC, which facilitates understanding interplay between subcortical and cortical networks controlling writing. This study evaluated 62-year-old right-handed Japanese man presenting difficulties typing In addition to neuropsychological...
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;...
<h3>Objective:</h3> To determine the clinical features of myositis patients with histopathologic finding CD8-positive T cells invading non-necrotic muscle fibers expressing major histocompatibility complex class 1 (CD8-MHC-1 complex), which is shared by polymyositis (PM) and inclusion body (IBM), in relation to p62 immunostaining pattern fibers. <h3>Methods:</h3> All 93 CD8-MHC-1 who were referred our hospital from 1993 2015 classified on basis European Neuromuscular Center (ENMC) diagnostic...
<h3>Objective</h3> To provide evidence that idiopathic inflammatory myopathy (IM) with myasthenia gravis (MG) frequently shows thymoma association and polymyositis (PM) pathology shares clinicopathologic characteristics IM induced by immune checkpoint inhibitors (ICIs). <h3>Methods</h3> We analyzed the features of 10 patients MG identified in 970 consecutive biopsy-proven IM. <h3>Results</h3> Seven (70%) had thymoma. were diagnosed more than 5-year time difference 6 thymomatous within 1 year...
Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for novel c.1331C>T in CAPN3, leading to diagnosis calpainopathy. genetic analysis her parents the possibility that was de novo. In this patient, onset age earlier than reported dominant cases,...
Key Clinical Message In a patient with anti‐aminoacyl tRNA synthetase antibody and anti‐OJ syndrome, interventions likes warming, prostaglandins, antiplatelets failed. However, prednisolone pulse treatment rapidly halted disease progression. Patients mild interstitial pneumonia, myositis, extremity necrosis should be promptly considered for anti‐synthetase syndrome receive immunosuppression after ruling out other causes. Abstract Anti‐aminoacyl (ARS) autoantibodies are myositis‐specific,...
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.
With the expanding use of immune checkpoint blockers typified by anti–programmed death-1 (PD-1) and anti–cytotoxic T-lymphocyte-associated protein 4 monoclonal antibodies (Abs) for antitumor therapy, number patients showing immune-related adverse events (irAEs) is increasing. Skeletal muscle one target tissues irAEs several features myopathy as have been reported: myasthenia gravis (MG) overlap, cardiac involvement, necrotizing myopathy, inflammatory with T-cell B-cell infiltration.1–4...
Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated OPDM type 1 (OPDM1). In contrast to broadening our knowledge on genetic background OPDM, what we know clinical phenotype genetically confirmed OPDM1 remains limited.This investigation was single-center case series study consisting ten patients from seven families. Repeat-primed...
A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy postural atrophy, rigid spine syndrome (RSS) Emery-Dreifuss muscular dystrophy. In 2008, we identified a missense mutation second LIM (c.365 G>C, p.W122S) family SP myopathy. We generated knock-in mouse model harboring c.365 G>C...
X-linked scapuloperoneal myopathy (X-SM), one of Four-and-a-half LIM 1 (FHL1) related diseases, is an adult-onset slowly progressive myopathy, often associated with cardiomyopathy. We previously generated a knock-in mouse model that has the same mutation (c.365 G > C, p.W122S) as human X-SM patients. The mutant male developed late-onset without In this study, we observed heterozygous (Het) and homozygous (Homo) female mice did not show alterations skeletal muscle function or histology....
The clinical characteristics of Guillain-Barré syndrome (GBS) after coronavirus disease 2019 (COVID-19) remain unclear due to the small number cases. We herein report a case Japanese patient with post-COVID-19 GBS who presented facial and limb muscle weakness, sensory deficits, autonomic dysfunction. Nerve conduction studies revealed demyelination. Head magnetic resonance imaging showed contrast enhancement in bilateral nerves. Systemic management, including intubation, intravenous...