A5024689966- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Cerebrovascular and genetic disorders
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Moyamoya disease diagnosis and treatment
- Neurogenetic and Muscular Disorders Research
- Autoimmune Neurological Disorders and Treatments
- Peripheral Neuropathies and Disorders
- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Genomics and Rare Diseases
- Neurological Complications and Syndromes
- Nuclear Structure and Function
- Inflammatory Myopathies and Dermatomyositis
- Neurological diseases and metabolism
- Vascular Malformations Diagnosis and Treatment
- Trypanosoma species research and implications
- Thyroid and Parathyroid Surgery
- Genetics and Neurodevelopmental Disorders
- Salivary Gland Disorders and Functions
- Neurological and metabolic disorders
- Herpesvirus Infections and Treatments
- CNS Lymphoma Diagnosis and Treatment
The University of Tokyo
2018-2025
Mita Hospital
2022-2025
International University of Health and Welfare
2024
University of Tokyo Hospital
2019-2023
Tokyo Teishin Hospital
2017-2020
Japanese Red Cross Medical Center
2017-2019
Shizuoka University of Welfare
2017
Isuzu Motors (United States)
2015
CSF tau phosphorylated at threonine 181 (p-tau181) is a widely used biomarker for Alzheimer disease (AD) and has recently been regarded to reflect β-amyloid and/or p-tau deposition in the AD brain. Neuronal intranuclear inclusion (NIID) neurodegenerative characterized by inclusions neurons, glial cells, other somatic cells. Symptoms include dementia, neuropathy, others. biomarkers were not reported. The objective of this study was investigate whether including p-tau181 are altered patients...
A 59-year-old man without risk factors for atherosclerosis was diagnosed with coronavirus disease 2019 (COVID-19). Four days later, he developed dysarthria and gait disturbance. Neurological examination revealed slurred speech, ataxia, mild cognitive decline. Brain magnetic resonance imaging multiple infarcts in the bilateral middle cerebellar peduncles leukoencephalopathy, indicating diagnosis of cerebral autosomal dominant arteriopathy subcortical leukoencephalopathy (CADASIL). Genetic...
A 79-year-old woman was diagnosed with Sjögren's syndrome (SjS) at the age of 73 years by lip biopsy, gum test, and salivary gland scintigraphy positive antinuclear (ANA), anti-centromere (ACA), negative anti-Ro/SS-A antibodies. Seven days before admission, patient developed gait disturbance, which progressed to difficulty in walking two admission. She hospitalized because subacute disturbance. Neurological examination showed disturbances characterized small steps, wide-based gait, left...
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...
Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It predominantly characterized adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia or without spasticity relatively common Europe and North America, it considered rare Japan. This study aimed to identify patients among those undiagnosed within the Japanese population. Methods We retrospectively selected 351 ataxia,...
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...
A 69-year-old woman without a remarkable family history presented with 5-year of dizziness and gait difficulty. Neurologic examinations revealed saccadic eye movement mild limb truncal ataxia. She had tremor, hyporeflexia, miosis. Fluid-attenuated inversion recovery images showed isolated bilateral paravermal hyperintensities1 (Figure). Skin biopsy demonstrated eosinophilic intranuclear inclusions positive for ubiquitin p62 in the adipocytes sweat gland cells. Expanded CGG repeats NOTCH2NLC...
Corticobasal degeneration (CBD) is a rare progressive neurodegenerative disorder characterized by asymmetric presentation of cerebral cortex signs, cortical sensory disturbance and extrapyramidal signs. Herein, we report case 66‐year‐old Japanese woman who presented with apraxia the right hand. She subsequently developed postural instability cognitive impairments that rapidly worsened. One half years later, patient was wheelchair‐bound severely demented. Brain magnetic resonance imaging...
症例は66歳の女性である．回転性めまい，難聴で受診し，新規発症の多発性脳梗塞があり，心原性脳塞栓症と考え抗凝固療法を導入した．その後約1年間無症状で経過したが，左不全片麻痺を発症し再度多発性脳梗塞と診断された．左不全片麻痺は徐々に改善したが，失調性歩行，失行症状が出現し亜急性に進行した．血液検査で乳酸脱水素酵素，可溶性インターロイキン2受容体が高値で，悪性リンパ腫をうたがった．ランダム皮膚生検，開頭脳生検を施行し，血管内にB細胞系染色陽性の異型リンパ球の集簇をみとめ，血管内大細胞型B細胞リンパ腫の診断をえた．本疾患は急速に進行し予後不良だが，本症例は経過中約1年間進行が停止し，貴重な症例と考えた．
Abstract A 69‐year‐old man with a past history of asymptomatic abdominal aortic aneurysm developed pneumococcal meningitis. Antibiotic therapy improved his However, he also vertebral osteomyelitis, iliopsoas abscess, and infected aneurysm. The was sequentially dilated, suggesting the impending rupture. An emergency open repair using tube homograft performed. All are rare complications. In particular, if patient bacterial meningitis has preexisting aneurysm, should be noted. To prevent...
Abstract Systemic lupus erythematosus ( SLE ) is a multisystem disorder, which occurs mostly in young women. However, late‐onset does exist and sometimes presents with an atypical, diversified course. We describe 85‐year‐old woman who was admitted to our hospital for lower extremity edema hand grip weakness. Chest computed tomography scan 4 days after admission demonstrated rapid accumulation of pleural pericardial effusions, did not on admission. She diagnosed pleuritis pericarditis...
Objective Although aerobic exercise tests on cycle ergometry have long been used for initial assessments of cases suspected mitochondrial disease, the test parameters in patients with final diagnoses other diseases via widely 15 W minutes protocol not fully characterized. Methods We retrospectively reviewed all who underwent at our institution. classified genetic or those met previously reported clinical criteria as having and a diagnosis another disease diseases. Results were available from...
Post-transplant lymphoproliferative disorders (PTLDs) are diseases that occur after solid organ transplantation or hematopoietic stem cell (HSCT). The development of PTLD is often associated with reactivation Epstein-Barr virus (EBV). A 26-year-old woman a history HSCT and total-body irradiation developed spinal cord hemorrhage from radiation-induced cavernous hemangioma (RICH) shortly the classical Hodgkin lymphoma EBV reactivation. Although little known about factors leading to hemorrhagic...
<title>Abstract</title> When two heterozygous variants are detected in genes for diseases with autosomal recessive inheritance, determining whether the located <italic>in cis</italic> or trans</italic> is crucial. Subcloning long-range PCR products cDNA limited by factors such as distance between (up to 10 kb) and availability. Droplet digital PCR, effective up distances of 100 kb, faces challenges specific probe design. We utilized replication cycle reaction (RCR) amplifying large genomic...