- T-cell and Retrovirus Studies
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- Peripheral Neuropathies and Disorders
- RNA regulation and disease
- Biochemical Analysis and Sensing Techniques
- melanin and skin pigmentation
- Animal Disease Management and Epidemiology
- Neurological Disease Mechanisms and Treatments
- Glioma Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Mesenchymal stem cell research
- Vector-Borne Animal Diseases
- Genetic Neurodegenerative Diseases
- RNA Interference and Gene Delivery
- Multiple Sclerosis Research Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Inflammatory Myopathies and Dermatomyositis
- Neurological and metabolic disorders
- S100 Proteins and Annexins
- Migraine and Headache Studies
- Sphingolipid Metabolism and Signaling
- Autoimmune Neurological Disorders and Treatments
Kagoshima University
2015-2022
National Hospital Organization Mito Medical Center
2014-2022
Gunma University
2004-2016
National Hospital Organization
2016
Kyoto University
2015
Takarazuka City Hospital
2015
Okayama University
2006-2012
Sophia University
2009
<h3>SUMMARY:</h3> Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the <i>colony stimulating factor 1 receptor</i> gene. Accurate diagnosis can be difficult because associated clinical MR imaging findings are nonspecific. We present 9 cases intracranial calcifications distributed 2 brain regions: frontal white matter adjacent to anterior horns of lateral ventricles parietal subcortical matter....
ObjectiveHTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) can progress slowly or rapidly even though a set of symptoms such as with pathological reflexes and sweating loss the lower extremities are commonly observed in patients. Although most patients thought to be infected HTLV-1 from their mothers by breast feeding, HAM/TSP typically manifest later life (50–60 years old age) also higher prevalence women men at ratio approximately 3:1. Probability developing how fast an...
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations in CSF1R. Pathogenic exons 12-22 including coding sequence of the tyrosine kinase domain (TKD) CSF1R were previously identified. We aimed to identify patients who clinically suspected having ALSP determine pathogenicity novel variants.Sixty-one fulfilled diagnostic criteria included this study. Genetic analysis was performed for all exons. The haploinsufficiency examined frameshift RT-PCR....
Human mesenchymal stem cells (hMSCs) are multipotent found in the adult bone marrow that have capacity to differentiate into various cell types. The hMSCs may provide a potential therapy restore damaged tissues or organs of origin; however, drawback is their limited life span vitro.We immortalized normal with retrovirally transmitted human telomerase reverse transcriptase cDNA. One clones (YKNK-12) was established, and biological characteristics were investigated vitro vivo.YKNK-12 capable...
Although human T-lymphotropic virus type 1 (HTLV-1) infection is a prerequisite for the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), specific provirus mutations in HAM/TSP have not yet been reported. In this study, we examined whether patients had disease-specific genomic variants HTLV-1 by analyzing entire sequences proviruses these patients, including familial cases. addition, investigated genetic host restriction factors conferring antiretroviral...
Granulomatous amoebic encephalitis (GAE) is an infrequent and fatal infectious disease worldwide. Antemortem diagnosis in this condition very difficult because clinical manifestations neuroimaging are nonspecific.A 60-year-old Japanese woman was admitted with a chief complaint of left homonymous hemianopsia. Brain-MRI showed extensive necrotizing lesions enhanced by gadolinium, the right frontal lobe, occipital parietal lobe. Epithelioid granulomas unknown etiology were found biopsied brain...
Abstract The presence of fragile X mental retardation 1 ( FMR1 ) premutation has been linked to patients with a certain type cerebellar ataxia, the X-associated tremor/ataxia syndrome (FXTAS). However, its prevalence in Japan yet be clarified. aim present study is determine FXTAS Japanese ataxia and describe their clinical characteristics. DNA samples were collected from 1328 referred for genetic diagnosis. Among them, 995 negative results most common spinocerebellar subtypes screened...
We studied seven cases of Alzheimer's disease (AD). Six the patients had presenilin 1 (PS1) mutations (PS1AD). Three novel PS1 (T99A, H131R and L219R) three other missense (M233L, H163R V272A) were found in PS1AD group. measured levels phosphorylated tau (ptau-181, ptau-199) Aβ (Aβ1-42, Aβ1-40 Aβ1-38) cerebrospinal fluid (CSF) patients, early-onset sporadic AD (EOSAD), late-onset (LOSAD) non-demented subjects (ND). The CSF Aβ1-42 groups significantly lower than those ND group (p < 0.0001)....
Primary progressive aphasia (PPA) is a cognitive syndrome characterized by and isolated language impairments due to neurodegenerative diseases. Recently, an international group of experts published Consensus Classification the three PPA clinical variants (naPPA, svPPA lvPPA). We analyzed 24 patients with functions, neuroimaging (MRI, 99 mTc ECD-SPECT, 11C PiB-PET FDG-PET) cerebrospinal fluid (CSF) analysis (ptau-181, Aβ1-42, Aβ1-40 Aβ1-38), elucidate relationships between studies biochemical...
There is growing evidence showing the important role of cholesterol in maintaining neuronal function. In particular, much attention has been paid to cholesterol-rich microdomains called lipid rafts. However, distribution on neurons not clear. Here, we investigated localization cultured rat hippocampal neurons, using filipin and a novel cholesterol-binding reagent BCtheta. our culture system, BCtheta detects only cell-surface cholesterol, whereas stains both intracellular cholesterol....
We herein describe a case of 38-year-old man with familial hemiplegic migraine T666M mutation in the electrical potential-dependent calcium ion channel (CACNA1A) gene. His was accompanied by hemiparesis and impaired consciousness. Brain magnetic resonance imaging revealed abnormalities right cortical hemisphere. Single-photon emission computed tomography demonstrated decrease iomazenil uptake an increase 99mTc-ethyl cysteinate dimer at ipsilateral site. Positron showed 18F-fluorodeoxyglucose...
<h3>Objective:</h3> To determine the causative pathogen and investigate effective treatment of a new type encephalomyelitis with an unknown in Japan report preliminary ultrastructural genomic characterization agent. <h3>Methods:</h3> From 2005 to 2012, we treated 4 Japanese patients geographic clustering comparable clinical features, serum/CSF cytology, radiologic findings. Brain biopsy was conducted all analyze neuropathologic changes by histology, electron microscopy applied reveal...
Lobar cerebral microbleeds (CMBs) in Alzheimer's disease (AD) are associated with amyloid angiopathy (CAA) due to vascular beta (Aβ) deposits. However, the relationship between lobar CMBs and clinical subtypes of AD remains unknown. Here, we enrolled patients early- late-onset amnestic dominant AD, logopenic variant primary progressive aphasia (lvPPA) posterior cortical atrophy (PCA) who were compatible criteria. We then examined levels cerebrospinal fluid (CSF) biomarkers [Aβ1-42, Aβ1-40,...
Japan is one of the world's highly endemic areas for human T cell leukemia virus type 1 (HTLV-1), and it known that infection rate HTLV-1 increases with age. The among elderly has been estimated based on data from blood donors under age 65, actual number are unknown. Data 26,090 preoperative screening tests conducted at Kagoshima University Hospital 2001 to 2020, including 2726 HTLV-1-positive patients, were used calculating decadal rates year birth. Estimated by birth demographic tables...
The T cell line HOZOT has a unique FOXP3+CD4+ CD8+CD25+ phenotype, exhibits suppressive activity in allogeneic mixed lymphocyte reactions (MLR), and produces IL-10, defining as regulatory cells (Tregs). Interestingly, addition to possessing Treg ability, was also found show cytotoxicity against certain representative human cancer types. In order disclose the range of anti-tumor by HOZOT, we screened it using panel twenty tumor lines with different origins. Consequently, showed potent...
In Alzheimer's disease, the apolipoprotein E gene (APOE) ε2 allele is a protective genetic factor, whereas APOE ε4 risk factor. However, both and alleles are factors for lobar intracerebral hemorrhage. The reasons high prevalence of hemorrhage low disease with remains unknown. Here, we describe case 79-year-old Japanese female homozygous allele. This patient presented recurrent hemorrhages multiple cortical superficial siderosis. findings on 11 C-labeled Pittsburgh Compound B-positron...
症例は46歳男性である.6年前にM蛋白血症を指摘され,4年前に骨髄穿刺でリンパ形質細胞性リンパ腫の所見がみられ,原発性マクログロブリン血症(Waldenström's macroglobulinaemia;WM)と診断されていた.最近,四肢の脱力・異常感覚などが出現したため当科入院し,POEMS症候群と診断した.POEMS症候群の治療にはレナリドマイドをもちい症状改善がみられたが,これは本邦で初の報告である.WMとPOEMS症候群の合併はきわめてまれであり,WMの腫瘍細胞によりVEGFが高値となり,POEMS症候群を惹起した可能性が考えられた.
Abstract Objective HTLV‐1 infection causes HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP), resulting in loss of motor function. In this Phase 2 trial, we assessed the efficacy and safety l‐ arginine patients with HAM/TSP. Methods This open‐label, single‐arm, study enrolled diagnosed Patients received l ‐arginine at a dose 20 g orally for 1 week were followed‐up 3 weeks. The primary endpoint was change walking speed 10‐m walk test (10MWT). main secondary endpoints Timed...