A5068829446- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Peripheral Neuropathies and Disorders
- Myasthenia Gravis and Thymoma
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Balance, Gait, and Falls Prevention
- Cerebrovascular and Carotid Artery Diseases
- Cerebral Palsy and Movement Disorders
- Acute Ischemic Stroke Management
- Dementia and Cognitive Impairment Research
- Botulinum Toxin and Related Neurological Disorders
- Mitochondrial Function and Pathology
- Nuclear Receptors and Signaling
- Health and Well-being Studies
- Aortic Thrombus and Embolism
- Migration, Aging, and Tourism Studies
- Cardiovascular Health and Disease Prevention
- Blood Pressure and Hypertension Studies
- Metabolism and Genetic Disorders
- Advanced Neuroimaging Techniques and Applications
- RNA regulation and disease
- RNA modifications and cancer
- Cardiac Health and Mental Health
- Herpesvirus Infections and Treatments
Kochi Medical School Hospital
2006-2024
Kōchi University
1999-2023
Nakamura Memorial Hospital
2019
Hokkaido University
2019
Kagoshima University
2019
University College London
2002-2009
National Hospital for Neurology and Neurosurgery
2002-2009
Asahikawa Medical College Hospital
2009
University Hospital Heidelberg
2002
The Royal Free Hospital
2002
Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system widely considered be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement genetic components.
Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson (PD) and dementia Lewy bodies (DLB). To investigate the role of GBA in multiple system atrophy (MSA), we analyzed a large case-control series.We sequenced coding regions flanking splice sites 969 MSA patients (574 Japanese, 223 European, 172 North American) 1509 control subjects (900 315 294 American). We focused solely on Gaucher-disease-causing variants.In Japanese series, found nine carriers...
Background and Purpose Postural hypotension, which occurs frequently in community-living, apparently healthy elderly adults, is usually asymptomatic. However, the relation between postural changes blood pressure quantitative higher cerebral function or silent brain lesions remains unclear. We examined association of exaggerated systolic with cognitive neurobehavioral functions on MRI community-dwelling older elderly. Methods The study population consisted 334 aged 75 years (mean age, 80...
We assessed the accuracy of clinical diagnosis progressive supranuclear palsy (PSP, Steele-Richardson-Olszewski disease) and validity existing sets diagnostic criteria for PSP (see Appendix) using neuropathologically examined cases from Queen Square Brain Bank Neurological Disorders. Diagnosis was made by 40 different physicians, 60 clinically diagnosed as when last in life were studied. In 47 (78%), confirmed pathologically. False-positive diagnoses included Parkinson's disease with...
Abstract The revised (new) consensus clinical diagnostic criteria for multiple system atrophy (MSA) were published in 2008. To validate these criteria, we utilized the same cohort that reported previously, which included 59 patients with a diagnosis of MSA was confirmed neuropathologically 51 them at Queen Square Brain Bank Neurological Disorders. At first clinic visit, sensitivity new possible category higher, and PPV marginally than old category. New probable showed higher than, as, last...
<b><i>Objective:</i></b> To assess the accuracy of a clinical diagnosis multiple system atrophy (MSA) and compare it to Quinn Consensus criteria for MSA using neuropathologically examined cases from Queen Square Brain Bank Neurological Disorders. <b><i>Methods:</i></b> Fifty-nine with neurologic when last assessed prior death were studied. <b><i>Results:</i></b> In 51 (86%) these cases, was confirmed pathologically. False positive diagnoses included PD (n = 6), progressive supranuclear palsy...
The authors describe a case of clinically diagnosed young onset progressive supranuclear palsy (PSP) with symptom at 40 years age and no family history neurodegenerative disease. There was falls during the first year symptoms. Genetic analysis identified this patient as having tau exon 10 +16 mutation (MAPT, IVS10, C-U, +16). Neuropathologic examination confirmed genetic diagnosis frontotemporal dementia. An younger than 50 combined absence early may indicate possibility in PSP.
BACKGROUND : Several studies in older people have found a U‐shaped or J‐shaped association of blood pressure with mortality. The increased mortality associated the lowest levels been explained by concurrent illnesses and frailty, but previous used measured on single occasion. Such casual value is different from long‐term average pressure. We investigated relation between level 5‐day consecutive home while adjusting for potential confounding factors including morbidity frailty at baseline....
Osaki Y, Morita Kuwahara T, Miyano I, Doi Y. Prevalence of Parkinson's disease and atypical parkinsonian syndromes in a rural Japanese district.Acta Neurol Scand: 2011: 124: 182–187.© 2010 John Wiley & Sons A/S. Objectives – To investigate the prevalence (PD) (APS) district. Method Collaboration with medical institutions, long-term care insurance system facilities, public health office. Results The crude rates were 175 per 100 000 (95% CI: 143–206) for PD, 18 (8–28) progressive supranuclear...
Abstract We report the long‐term treatment of a 38‐year‐old man with generalized thymoma‐associated myasthenia gravis who was treated efgartigimod. He received chemotherapy and oral prednisolone before thymectomy. However, after initial improvement in symptoms, he deteriorated needed continuous noninvasive positive‐pressure ventilation, highest Myasthenia Gravis‐Activities Daily Living score 14. Immunosuppressive therapy plasma exchange showed limited benefit, anti‐acetylcholine receptor...
To evaluate the safety and efficacy of dose-dense weekly chemotherapy in treatment advanced thymoma. Subjects comprised patients with histologically documented chemotherapy-naïve thymoma stage-IVa or IVb disease. Thymic carcinoma, carcinoid lymphoma cases were excluded. Patients received 9 weeks chemotherapy: cisplatin (25 mg m−2) on 1–9; vincristine (1 1, 2, 4, 6 8; doxorubicin (40 etoposide (80 days 1–3 3, 5, 7 9. Chemotherapy courses supported by granulocyte colony-stimulating factor....
Abstract To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted genome-wide association study (GWAS) in Japanese MSA case/control series followed by replication studies Japanese, Korean, Chinese, European and North American samples. In GWAS stage rs2303744 on chromosome 19 showed suggestive ( P = 6.5 × 10 −7 ) that was replicated additional samples 2.9 −6 . OR 1.58; 95% confidence interval, 1.30 to 1.91), then confirmed as highly...
Recently, Gilden et al [1] reported two cases of zoster sine herpete. Zoster herpete is a varicella-zoster virus (VZV)-associated syndrome without the rash cutaneous zoster. [2] In few lower cranial neuritis due to VZV, most patients also had seventh and eighth nerve involvement herpetic lesions. We report first case affecting only unilateral ninth, tenth, eleventh nerves. A 43-year-old Japanese man who developed an upper respiratory infection followed by pharyngeal pain, dysphagia,...
We investigated transcranial magnetic stimulation (TMS) parameters in patients with parkinsonism, particularly the early stages of disease.We performed TMS 48 PD, progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). measured motor threshold (MT), latency (L), motor-evoked potential amplitude central conduction time (CMCT) cortical silent period (CSP). Furthermore, we selected compared 27 a disease duration less than 3 years.CMCT, MT, L CSP were different among three...
To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, chorein Western blotting erythrocyte ghosts. As results analysis, 17 were molecularly diagnosed ChAc. In addition, we investigated distribution gene clinical symptoms total 39 ChAc, 22 previously reported cases.We identified 11 novel...
Abstract We investigated regional cerebral blood flow (rCBF) using three‐dimensional stereotactic surface projection (3D‐SSP) analysis in 30 patients initially diagnosed as Parkinson's disease (PD), and compared differences rCBF between with without PD‐related manifestations. 3D‐SSP of perfusion was performed by use a control database. Compared to age‐matched controls, there were multiple hypoperfusion areas cases where the original diagnosis PD. Temporal bases showed lowest perfusion;...
We report a man who developed selenium-deficient myopathy during long-term parenteral nutrition. Muscle biopsy showed marked mitochondrial depletion in the deep sarcoplasm and enlarged mitochondria at periphery mainly type 2 fibers. weakness improved gradually after second course of selenium supplementation. The peculiar abnormalities muscle fibers appear to play key role pathogenesis myopathy. © 1998 John Wiley & Sons, Inc. Nerve 21:637–639, 1998.