[Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene].

The case of a 72-year-old demented woman having episodes of strokes without any risk factors for cardiovascular disease is reported. Her elder brother and sister have also had stroke episodes since their middle age. She experienced hallucinations, delusions, and recurrent headaches since the age of 55.

CDR3 spectratyping analysis of the TCR repertoire in myasthenia gravis.

Because myasthenia gravis (MG) is an autoimmune disease mediated by Abs specific for the acetylcholine receptor, helper T cells play a role in Ab production. In this study, we have performed large-scale cross-sectional and longitudinal TCR studies by CDR3 spectratyping using PBL and thymus tissues from MG patients. We found that there was no preferential usage of any particular TCR beta-chains that was identical among MG patients.

Selective adsorption of human CD4 T cells.

The pathogenesis of most autoimmune diseases directly involves CD4(+) helper T cells. To remove CD4(+) T cells selectively from the circulation, we designed a new column in which an anti-CD4 monoclonal antibody was immobilized on the activated substance. Nearly 90% of CD4(+) T cells were selectively adsorbed from whole blood with a single passage through the column in vitro, resulting in depletion of the antigen-specific T cell responses.

[Medical care and long-term care insurance and clinical practice guideline for neurological disorders].

Society in 21st century is a global community, and undergoes a paradigm shift to a new value. This is about the significance of clinical practice guideline for neurological disorders as a new paradigm in information technology society and global community. Medical care is required to be "safer, more effective, more efficient and more transparent" in 21st century.

Thymic myoid cells as a myasthenogenic antigen and antigen-presenting cells.

We investigated immune property of a myoid cell line, established from Fisher rat thymus. Immunization of syngeneic rats with the myoid cells induced anti-rat acetylcholine receptor (AChR). Implantation of them into the thymus failed to induce typical thymic pathology of human myasthenia gravis (MG) or anti-AChR responses.

Cytapheresis with a filter for selective removal of CD4+ T cells in experimental autoimmune encephalomyelitis.

Experimental autoimmune encephalomyelitis (EAE) is a major animal model of human multiple sclerosis (MS). CD4+ T cells are thought to play a pivotal role in the pathogenesis of EAE and MS. In order to investigate the depletion of CD4+ T cells from the systemic circulation as an effective strategy for the treatment of MS, we performed extracorporeal CD4+ T cell adsorption, using a filter to which anti-CD4+ antibody is immobilized as a ligand, in adoptively transferred EAE.

X-linked motor and sensory neuropathy with pyramidal signs and cerebral white matter lesions.

We report two brothers with hereditary motor and sensory neuropathies and pyramidal signs. Electrophysiological evaluation revealed polyneuropathy and involvement of the central motor, somatosensory, and auditory pathways. Brain magnetic resonance imaging studies showed diffuse white matter lesions, and sural nerve biopsy identified a reduction in the large myelinated nerve fibers.

Development of a device for selective removal of CD4+ T cells.

To control antigen (Ag)-specific immune cells is important in the treatment of autoimmune diseases. In particular, controlling the immune response of autoimmune T cells is effective in the treatment of these diseases. The development of a device that can remove CD4+ T cells specifically by extracorporeal circulation is now in progress, with the aim to deplete autoimmune T cells.

Paramyotonia congenita due to a de novo mutation: a case report.

A Japanese man with a negative family history of paramyotonia congenita (PMC) was evaluated for symptoms of cold-induced weakness and stiffness. Exercise testing revealed findings characteristic of PMC, and a genetic analysis was therefore performed. A well-known sodium channel mutation for PMC (T1313M) was identified in the patient, but was absent in his biological parents.

Miller Fisher syndrome and plasmapheresis.

Treatment for Miller Fisher syndrome (MFS) is controversial, and even the natural history and prognosis are not fully understood. We retrospectively reviewed our cases of MFS for the last 3 years. The analysis of 4 MFS cases revealed that we had performed plasmapheresis or additional immunotherapy to each of 4 patients, and their symptoms resolved for up to 50 days after the onset (ataxia improved 20-35 days and ophthalmoplegia for 25-50 days) except for 1 patient, and that Guillain-Barré syndrome had been diagnosed in 1 patient who had developed profound muscle weakness.

[The effects of repetitive transcranial magnetic stimulation (rTMS) in the patients with Parkinson's disease].

The 1-Hz rTMS of 320 stimuli with an intensity of 90% of motor threshold was applied over the vertex of the skull using a round coil in a day. The effects of short-term (treated in 5 successive days) treatment was examined in 6 patients and long-term (treated in every one or two weeks for six months) treatment was examined in five. Unified Parkinson's Disease Rating Scale (UPDRS), motor evoked potential threshold (MT) and cortical silent period (SP) were recorded before and one day after the short-term treatment.