[Diseases Separated from Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Anti-Myelin-Associated Glycoprotein Neuropathy and Autoimmune Nodopathy].

Anti-myelin-associated glycoprotein (Anti-MAG) neuropathy and autoimmune nodopathies with antibodies targeting nodal or paranodal proteins have recently been reclassified as distinct conditions, separate from chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). This distinction is based on the clinical homogeneity observed in antibody-positive cases, their unique response to treatment compared to CIDP, and evidence indicating the pathogenic role of these autoantibodies. The significance of identifying conditions outside the CIDP category lies in the elucidation of their distinct pathological mechanisms and providing appropriate immunotherapy accordingly.

Serum IgG anti-GD1a antibody and mEGOS predict outcome in Guillain-Barré syndrome.

Objective: Approximately 15%-20% of patients with Guillain-Barré syndrome (GBS) are unable to walk independently at 6 months from the onset of neurological symptom. The modified Erasmus GBS outcome score (mEGOS) has been reported as a prognostic tool.Herein we investigated the association between a poor outcome, inability to walk independently at 6 months and presence of antiganglioside antibodies.

Safety and efficacy of eculizumab in Guillain-Barré syndrome: a multicentre, double-blind, randomised phase 2 trial.

Background: Despite the introduction of plasmapheresis and immunoglobulin therapy, many patients with Guillain-Barré syndrome still have an incomplete recovery. Evidence from pathogenesis studies suggests the involvement of complement-mediated peripheral nerve damage. We aimed to investigate the safety and efficacy of eculizumab, a humanised monoclonal antibody against the complement protein C5, in patients with severe Guillain-Barré syndrome.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12.

Paranodal dissection in chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 and anti-contactin-1 antibodies.

Objective: To investigate the morphological features of chronic inflammatory demyelinating polyneuropathy (CIDP) with autoantibodies directed against paranodal junctional molecules, particularly focusing on the fine structures of the paranodes.

Methods: We assessed sural nerve biopsy specimens obtained from 9 patients with CIDP with anti-neurofascin-155 antibodies and 1 patient with anti-contactin-1 antibodies. 13 patients with CIDP without these antibodies were also examined to compare pathological findings.

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.

Clinical features of autoimmune autonomic ganglionopathy and the detection of subunit-specific autoantibodies to the ganglionic acetylcholine receptor in Japanese patients.

Autoimmune autonomic ganglionopathy (AAG) is a rare acquired channelopathy that is characterized by pandysautonomia, in which autoantibodies to ganglionic nicotinic acetylcholine receptors (gAChR) may play a central role. Radioimmunoprecipitation (RIP) assays have been used for the sensitive detection of autoantibodies to gAChR in the serum of patients with AAG. Here, we developed luciferase immunoprecipitation systems (LIPS) to diagnose AAG based on IgGs to both the α3 and β4 gAChR subunits in patient serum.

Successful treatment of infliximab-associated immune-mediated sensory polyradiculopathy with intravenous immunoglobulin.

Infliximab, a tumor necrosis factor-alpha antagonist, is used to treat many inflammatory diseases. Various forms of demyelinating neuropathies have been reported as neurological complications associated with infliximab use. There have been few reports of pure sensory neuropathy associated with infliximab.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.

Cu/Zn superoxide dismutase (SOD1) gene mutations are the most frequently reported genetic causes of amyotrophic lateral sclerosis (ALS). The objective of the study was to describe a clinical phenotype and haplotype background of Polish and Japanese ALS patients harbouring the K3E SOD1 mutation. The K3E mutation was identified by direct sequencing, high resolution melting analysis or high-throughput microarray-based resequencing system.

A new maneuver for repetitive nerve stimulation testing in the trapezius muscle.

Introduction: The repetitive nerve stimulation (RNS) test in the trapezius muscle is used widely for the evaluation of myasthenia gravis. However, pseudofacilitation is often difficult to avoid in this muscle and may compromise the detection of small decremental responses. We have devised a new maneuver to reduce pseudofacilitation.

An antibody to the GM1/GalNAc-GD1a complex correlates with development of pure motor Guillain-Barré syndrome with reversible conduction failure.

Antibodies to a ganglioside complex consisting of GM1 and GalNAc-GD1a (GM1/GalNAc-GD1a) are found in sera from patients with Guillain-Barré syndrome (GBS). To elucidate the clinical significance of anti-GM1/GalNAc-GD1a antibodies in GBS, clinical features of 58 GBS patients with IgG anti-GM1/GalNAc-GD1a antibodies confirmed by enzyme-linked immunosorbent assay and thin layer chromatography immunostaining were analyzed. Compared to GBS patients without anti-GM1/GalNAc-GD1a antibodies, anti-GM1/GalNAc-GD1a-positive patients more frequently had a preceding respiratory infection (n=38, 66%, p<0.

[A case of Sjögren syndrome with subacute combined degeneration-like posterior column lesion on cervical MRI].

We report a case of a 67 year-old man with bilateral sensory ataxia of the upper extremities. He was diagnosed as having ANCA-related angitis and Sjögren syndrome at age 60. On admission to our hospital at age 67, he presented with severe sensory ataxia in his upper extremities, while his lower extremity neurological symptoms were limited to the absence of tendon reflexes.

Anti-GM1/GD1a complex antibodies in GBS sera specifically recognize the hybrid dimer GM1-GD1a.

It is now emerging the new concept that the antibodies from some patients with Guillain-Barré syndrome (GBS) recognize an antigenic epitope formed by two different gangliosides, a ganglioside complex (GSC). We prepared the dimeric GM1-GD1a hybrid ganglioside derivative that contains two structurally different oligosaccharide chains to mimic the GSC. We use this compound to analyze sera from GBS patients by high-performance thin-layer chromatography immunostaining and enzyme-linked immunosorbent assay.

Antibodies against ganglioside complexes in Guillain-Barré syndrome and related disorders.

Guillain-Barré syndrome (GBS) is acute autoimmune neuropathy, often subsequent to an infection. Serum anti-ganglioside antibodies are frequently elevated in titer. Those antibodies are useful diagnostic markers and possible pathogenetic factors.

[Case of pure motor Guillain-Barré syndrome with motor conduction block and anti-GM1/GalNAc-GD1a antibody].

A 38-year-old man presented with distal-dominant limb weakness two weeks after an upper respiratory infection. He had no sensory and autonomic signs and no cranial nerve involvement during the course of the disease. Tendon reflexes were preserved except for an absent Achilles' tendon reflex.

Antibodies to ganglioside complexes consisting of asialo-GM1 and GQ1b or GT1a in Fisher and Guillain-Barré syndromes.

To determine the epitopes of ganglioside complexes (GSCs) containing GQ1b or GT1a, we investigated their reactivity to GSCs consisting of asialo-GM1 (GA1) and GQ1b or GT1a using IgG anti-GQ1b- or anti-GT1a-positive sera. Nine anti-GQ1b-positive sera had higher activity to GA1/GQ1b than to GQ1b, only five of which reacted with GM1/GQ1b and GD1b/GQ1b. Five of 14 sera positive for GA1/GT1a and GM1/GT1a were negative for GA1/GQ1b and GM1/GQ1b.

Antibodies against gangliosides and ganglioside complexes in Guillain-Barré syndrome: new aspects of research.

Guillain-Barré syndrome (GBS) is an acute autoimmune neuropathy, often preceded by an infection. Serum anti-ganglioside antibodies are frequently elevated in titer. Those antibodies are useful for diagnosis.

[Two cases of idiopathic carotid-cavernous fistula with headache and ophthalmoplegia].

We report two cases of idiopathic carotid-cavernous fistula (CCF) with primary symptoms of headache and diplopia. A 47-year-old woman presented with throbbing headache in her right frontal region followed by right trochlear nerve palsy. Brain magnetic resonance imaging (MRI) was normal but magnetic resonance angiography (MRA) and computed tomographic angiography (CTA) revealed abnormal signals around the right cavernous sinus.

Harmful effects of anti-GalNAc-GD1a antibodies and TNF-alpha on rat dorsal root ganglia.

The clinical characteristics of five (22%) of 23 patients with Guillain-Barré syndrome (GBS), whose serum contained immunoglobulin G (IgG) antibodies to the ganglioside N-acetylgalactosaminyl GD1a (GalNAc-GD1a), included pure motor weakness of the axonal type. These patients had a relatively good prognosis, but displayed higher serum tumor necrosis factor-alpha (TNF-alpha) titers than the other GBS patients. We examined the effect of serum from these patients with IgG anti-GalNAc-GD1a antibodies on neurites from cultured rat dorsal root ganglia (DRG) and found it to damage the myelin in well-elongated DRG neurites and monolayer cultures of Schwann cells and neurons.

Ganglioside complexes as new target antigens in Guillain-Barré syndrome.

Antibodies specific for a complex of gangliosides GD1a and GD1b (GD1a/GD1b) were found in sera from eight of 100 patients with Guillain-Barre syndrome (GBS) by the use of enzyme-linked immunosorbent assay and thin-layer chromatogram immunostaining. Those sera also had antibody activities to such ganglioside complexes as GD1a/GM1, GD1b/GT1b, and GM1/GT1b but had little or no reactivity to the each isolated antigen. Clustered epitopes of the ganglioside complex in the plasma membrane may be targeted by such an antibody, and interaction between the antibody and ganglioside complex may induce the neuropathy.

Therapeutic factors causing hallucination in Parkinson's disease patients, especially those given selegiline.

Selegiline protects nigral dopaminergic neurons and is recommended for the treatment of patients in the early stage of Parkinson's disease (PD). We treated 112 PD patients and noted that those given selegiline had a high incidence of hallucination. Our objective was to determine which clinical therapeutic factors cause such hallucinations.