A5013878172- Muscle Physiology and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Cellular transport and secretion
- Myasthenia Gravis and Thymoma
- Hereditary Neurological Disorders
- Genetics, Aging, and Longevity in Model Organisms
- Dysphagia Assessment and Management
- GDF15 and Related Biomarkers
- Parkinson's Disease and Spinal Disorders
- Eosinophilic Disorders and Syndromes
- RNA Research and Splicing
- Biochemical and Molecular Research
- Peripheral Neuropathies and Disorders
- Glycosylation and Glycoproteins Research
- Celiac Disease Research and Management
- Ion channel regulation and function
- RNA modifications and cancer
- Nuclear Structure and Function
National Center of Neurology and Psychiatry
2016-2025
Tokyo National Hospital
1997-2024
Yamaguchi University
2020
Shizuoka Medical Center
2020
National Hospital Organization
2020
Toneyama National Hospital
2020
University of Yamanashi
2020
Osaka University
2020
Saku Central Hospital
2019
National Hospital for Neurology and Neurosurgery
2019
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, same region as hereditary inclusion body (HIBM) locus. HIBM was originally described vacuole sparing quadriceps; therefore, two diseases have suspected be allelic. Recently, shown associated mutations gene encoding bifunctional enzyme,...
Abstract Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar weakness and rimmed vacuoles on biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 GIPC1 , have been reported to be causative for OPDM. Furthermore, neuronal intranuclear inclusion (NIID) has recently caused NOTCH2NLC . We aimed identify clinicopathologically characterize patients with OPDM who...
Objective The objective of this study was to identify new causes Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. Methods To efficiently novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese CMT using whole‐exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening the newly identified membrane metalloendopeptidase ( MME ) gene 354 additional clinically, genetically, pathologically,...
Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease preferential involvement of the tibialis anterior that spares quadriceps muscles in young adulthood. In a Japanese patient distal vacuoles, we identified pathogenic mutations gene encoding bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes initial two steps biosynthesis sialic acid. this study, demonstrated relationship between genetic and enzymatic activities using vitro expression assay...
Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such vigorous exercise, etc., false positive observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, miR-206, were previously reported alternative biomarkers duchenne muscular dystrophy (DMD). no...
Objective. Antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) have recently been associated with immune-mediated necrotizing myopathy, especially in patients statin exposure. As the data are very limited concerning phenotypes and treatment paediatric patients, we aimed to identify positive for anti-HMGCR antibodies clarify their features therapeutic strategies. Methods. We screened 62 who were clinically and/or pathologically suspected inflammatory myopathy...
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder. Here, we show that the CD63 antigen, which located on surface of extracellular vesicles (EVs), associated with increased levels muscle-abundant miRNAs, namely myomiRs miR-1, miR-133a, and miR-206, in sera DMD patients mdx mice. Furthermore, release EVs from murine myoblast C2C12 cell line was found to be modulated by intracellular ceramide Ca2+-dependent manner. Next, investigate effects survival, myoblasts myotubes...
<h3>Importance</h3> Repeat expansion of CGG in<i>LRP12</i>has been identified as the causative variation oculopharyngodistal myopathy (OPDM). However, to our knowledge, clinicopathologic features OPDM with repeat in<i>LRP12</i>(hereafter referred OPDM_LRP12) remain unknown. <h3>Objective</h3> To identify and characterize patients OPDM_LRP12<i>.</i> <h3>Design, Setting, Participants</h3> This case series included 208 a clinical or diagnosis oculopharyngeal muscular dystrophy (OPDM) from...
<h3>Background</h3> GNE myopathy (also called distal with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive characterised by skeletal muscle atrophy and weakness that preferentially involve the muscles. It caused mutations in gene encoding a key enzyme sialic acid biosynthesis, UDP-<i>N</i>-acetylglucosamine 2-epimerase/<i>N</i>-acetylmannosamine kinase (GNE). <h3>Methods</h3> We analysed <i>GNE</i> 212 Japanese patients. A retrospective medical record review...
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused contraction of the D4Z4 repeat on chromosome 4q35, FSHD2, mild plus aberrant hypomethylation mediated genetic variants in SMCHD1 , DNMT3B or LRIF1 . Genetic diagnosis challenging because complex procedures required. Methods We applied Nanopore CRISPR/Cas9-targeted resequencing for...
GNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants gene. No treatment has been established so far.We evaluated safety and efficacy oral supplementation aceneuramic patients with myopathy.This multicenter, placebo-controlled, double-blind study comprised genetically confirmed Japan who were randomly assigned into groups acid-extended release (SA-ER) tablets (6 g/day for 48 weeks) or placebo (4:1). The...
A rare muscle disease, GNE myopathy is caused by mutations in the gene involved sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic to patients slows disease progression.We conducted a III, randomized, placebo-controlled, double-blind, parallel-group, multicenter study. Participants were assigned receive an extended-release formulation (SA-ER) or placebo. Changes strength and function over 48 weeks compared between treatment groups...
ABSTRACT ADSS1 myopathy, previously known as adenylosuccinate synthetase‐like 1 (ADSSL1) is an autosomal recessive muscle disease caused by variants in (adenylosuccinate synthase 1). myopathy complicated respiratory weakness or cardiomyopathy well limb weakness. We analyzed two siblings with both harboring compound heterozygous pathogenic (c.781G>A/c.919delA) and provided details of their phenotypes together imaging autopsy findings. Although it was reported that usually began lower...
ABSTRACT Introduction : Little is known about the frequency of cardiopulmonary failure in limb‐girdle muscular dystrophy type 2A (calpainopathy) patients, although some studies have reported severe cardiomyopathy or respiratory failure. Methods To clarify dysfunction this patient population, we retrospectively reviewed and cardiac function 43 patients with calpainopathy. Results Nine had forced vital capacity (FVC) < 80%, 3 used noninvasive positive pressure ventilation. Mean FVC was...
To elucidate the prevalence of Japanese ADSSL1 myopathy and determine clinicopathologic features disease.We searched for variants in myopathic patients from January 1978 to March 2019 our repository assessed with variants.We identified 63 59 families biallelic ADSSL1. Among 7 distinct identified, c.781G>A c.919delA accounted 53.2% 40.5% alleles, respectively, suggesting presence common founders, while other 5 were novel. Most displayed more variable muscle symptoms, including symptoms...
Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). Neuronal intranuclear inclusion disease (NIID) clinically distinct from OPDM but also NOTCH2NLC, which may be an indicator skin biopsy. We investigated presence inclusions biopsies patients with and muscle diseases a similar pathology to evaluate whether they will have diagnostic findings on biopsy.We analysed frequency p62-positive sweat...