Immunotherapy for ocular myasthenia gravis: an observational study in Japan.

Background: Treatment for ocular myasthenia gravis (OMG) has not yet been well established. Few reports have been published on the clinical practice and outcomes of OMG.

Objectives: We investigated treatment of OMG and its outcomes in Japan.

Very late onset neuromyelitis optica spectrum disorders.

Background And Purpose: Neuromyelitis optica spectrum disorder (NMOSD) often presents in the elderly with an insidious onset of symptoms and aggressive progression. There have been anecdotal cases of very late onset (VLO)-NMOSD, but case series reports are rare. The aim of this retrospective study was to clarify the clinical features of VLO-NMOSD.

HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data.

HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype-phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB1*04:05, DRB1*15:01 and DPB1*03:01 correlated with MS susceptibility and DRB1*01:01, DRB1*09:01, DRB1*13:02 and DPB1*04:01 were protective against MS.

Autoantibodies in Japanese patients with ocular myasthenia gravis.

Introduction: The majority of patients with myasthenia gravis (MG) initially present with ocular symptoms, but it is difficult to predict which cases will remain as ocular MG (OMG) or will progress to generalized MG. Herein we evaluated the serologic profile of Japanese OMG and its relationship with clinical features.

Methods: Seventy-three patients with OMG from five Japanese myasthenia gravis (MG) centers were enrolled.

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.

Objective: Direct inhibition of acetylcholine receptor (AChR) function by autoantibodies (Abs) is considered a rare pathogenic mechanism in myasthenia gravis (MG), but is usually studied on AChRs expressed in cell lines, rather than tightly clustered by the intracellular scaffolding protein, rapsyn, as at the intact neuromuscular junction. We hypothesised that clustered AChRs would provide a better target for investigating the functional effects of AChR-Abs.

Methods: Acetylcholine-induced currents were measured using whole-cell patch clamping and a fast perfusion system to assess fast (<2 min) functional effects of the serum samples.

The Cross-Sectional Area of Paraspinal Muscles Predicts the Efficacy of Deep Drain Stimulation for Camptocormia.

Background: Camptocormia, a disturbance of posture, is a well-described clinical feature of PD and other parkinsonian syndromes. Previous reports have shown that DBS of the subthalamic nucleus (STN) or globus pallidus internus is effective in treating camptocormia. However, the efficacy of DBS for camptocormia varies.

Efficacy of intravenous methylprednisolone pulse therapy in patients with multiple sclerosis and neuromyelitis optica.

Background: No large-scale studies have compared the efficacy of intravenous methylprednisolone pulse therapy (IVMP) for multiple sclerosis (MS) and neuromyelitis optica (NMO).

Objective: To explain differences in treatment responses of MS and NMO patients to IVMP.

Methods: Changes in neurological symptoms/signs and Expanded Disability Status Scale (EDSS) scores before and within 1 week of IVMP completion were obtained in 2010 at 28 institutions, and retrospectively collated from 271 MS (478 courses) and 73 NMO (118 courses) cases.

The Effectiveness of the Stereotactic Burr Hole Technique for Deep Brain Stimulation.

Deep brain stimulation (DBS) is performed by burr hole surgery. In microelectrode recording by multi-channel parallel probe, because all microelectrodes do not always fit in the burr hole, additional drilling to enlarge the hole is occasionally required, which is time consuming and more invasive. We report a stereotactic burr hole technique to avoid additional drilling, and the efficacy of this novel technique compared with the conventional procedure.

[Left-sided metamorphopsia of the face and simple objects caused by an infarction at the right side of the splenium of the corpus callosum].

A 78-year-old woman noticed that people's eyes and the right nasal foramens located in her left visual field looked smaller than those observed in the right. The woman reported no change in shape regarding facial outlines or scenic objects. Magnetic resonance imaging revealed an acute infarction of the right side of the splenium of the corpus callosum.

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.

Alexander disease (AxD) is a rare neurodegenerative disorder. Most patients with AxD have a de novo dominant missense mutation in the glial fibrillary acidic protein (GFAP) gene. Patients with late-onset AxD exhibit a more variable onset and severity than patients with early-onset AxD, suggesting the existence of factors that modify the clinical phenotype of late-onset AxD.

[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state].

We report the case of a 40-year-old woman with Alexander disease. She experienced single seizure as 1-year-old, and became less active after that. Her academic records in elementary school were poor.

[Novel autoantibodies in myasthenia gravis].

Patients with myasthenia gravis(MG) are divided into three groups: (1) acetylcholine receptor antibody positive MG: 80%, (2) muscle-specific receptor tyrosine kinase (MuSK) antibody positive MG: 5-10%, and (3) double seronegative MG. In 2011, autoantibodies (Abs) against low-density lipoprotein receptor-related protein 4(Lrp4) were identified in Japanese MG patients and thereafter have been reported in Germany and USA. In other Lrp4 Ab papers, Lrp4 Ab positive sera inhibited agrin-induced aggregation of AChRs in cultured myotubes, suggesting a pathogenic role regarding the dysfunction of the neuromuscular endplate.

Clinical features of neuromyelitis optica in a large Japanese cohort: comparison between phenotypes.

Objective: To analyse clinicoepidemiological features of neuromyelitis optica in a large cohort and to compare the differences between onset age, gender and clinical phenotypes.

Methods: Antiaquaporin-4 antibody (AQP4-ab) levels were tested in 2366 serum samples of patients diagnosed as having central nervous system inflammatory demyelinating disorders by their referring physicians. AQP4-ab was measured by indirect immunofluorescence staining using human AQP4-transfected HEK 293 cells.

Long-term treatment of steroid-dependent myasthenia gravis patients with low-dose tacrolimus.

Objective: To examine the long-term effects of tacrolimus in steroid-dependent myasthenia gravis (MG) patients.

Patients And Methods: We administered tacrolimus at 3 mg/day to 10 generalized MG patients presented with clinical worsening by a reduction in dose of prednisolone. The effects of tacrolimus were assessed by using the MG activities of daily living (MG-ADL) profile and the post-intervention status criteria provided by the Myasthenia Gravis Foundation of America (PSC-MGFA).

[Case of non-alcoholic pellagra following gastrectomy].

A 67-year-old man was admitted to our hospital in May 2006 because of gait disturbance, delirium and myoclonus along with dermatitis and diarrhea. Those symptoms became worse in 3 months. He had undergone a gastrectomy, including a fundectomy and jejunal pouch interposition, for early gastric cancer at the age of 65 years.

[A case of alcoholic with vitamin B12 deficiency presenting central pontine and extrapontine myelinolysis on MRI].

A 55-year-old man with chronic alcoholism was first referred to us in 1992 because of spastic quadriparesis. T2-weighted images of MRI showed pontine and extracapsule lesions as central pontine and extrapontine myelinolysis (CPM/EPM). He had macrocytic anemia with normal serum level of vitamin B12 (B12).

[Case of Graves' disease presenting only with rapid consciousness disturbance].

A 79-year-old woman was admitted to our hospital because of forgetfulness for a month followed with rapid development of consciousness disturbance. After admission, the depressed consciousness level fluctuated but continued for more than a month. Thyroid function tests showed increased free T3 and T4 level, lowered level of TSH, and increased anti-TSH receptor antibody titer.

[An autopsied case of limbic encephalitis associated with extremely high titers of anti-SS-A antibodies in serum and anti-neuronal antibodies in CSF].

A 76-year old man was referred to our department because of several episodes of generalized convulsion followed by a loss of consciousness and the right hemiparesis. The disturbed consciousness and hemiparesis disappeared soon but the personal change persisted thereafter. T2 and diffusion weighted images of MRI taken on the admission showed high intensity lesions in the left medial temporal lobe including the hippocampus.

[A case report of acute polyradiculoneuritis developing after multiple injections of botulinum toxin for cervical dystonia].

A 68-year-old man receiving four times of injection of botulinum toxin type A for cervical dystonia developed acute polyradiculoneuritis 10 weeks after the final injection. He had been complaining of paresthesia in four limbs after the second injection of the treatment. On neurological examination, bilateral facial palsy, bulbar palsy, difficulty of breath, flaccid paralysis of all limbs, sensory disturbance of all modality and areflexia in all limbs, and positive Lasèque sign were noted.

[A case of subacute combined degeneration with normal serum vitamin B12 level].

A 40-year-old woman was admitted to our hospital because of pancytopenia with megaloblastic anemia. Two months later she complained of rapidly progressive gait disturbance and numbness in the distal part of limbs. She also told that her hair had turned totally gray in the third decade.