Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

Objectives: Intracerebral hemorrhage (ICH) and cerebral microbleeds (CMB) in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are more common in East Asian populations than in people of white European ancestry. We hypothesized that the ethnic difference is explained by the East Asian-specific NOTCH3 p.R75P mutation.

Serum proteins for monitoring and predicting visual function in patients with recent optic neuritis.

It is unclear whether serum proteins can serve as biomarkers to reflect pathological changes and predict recovery in inflammation of optic nerve. We evaluated whether serum proteins could monitor and prognosticate optic neuritis (ON). We prospectively recruited consecutive patients with recent ON, classified as ON with anti-aquaporin-4 antibody (AQP4-ON), ON with anti-myelin oligodendrocyte glycoprotein antibody (MOG-ON), and double-seronegative ON (DSN-ON).

Disease characteristics of idiopathic transverse myelitis with serum neuronal and astroglial damage biomarkers.

Despite its close association with CNS inflammatory demyelinating disorders (CIDDs), pathogenic characteristics of idiopathic transverse myelitis (ITM) remain largely unknown. Here, we investigated serum levels of neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) in patients with ITM to unravel the disease characteristics of ITM. We prospectively recruited 70 patients with ITM, 62 with AQP4 + NMOSD and 85 with RRMS-including 31 patients with acute TM attacks-along with 30 HCs.

Safety and Temporal Pattern of the Lymphocyte Count During Fingolimod Therapy in Patients With Multiple Sclerosis: Real-World Korean Experience.

Background And Purpose: Fingolimod (FTY) inhibits lymphocyte egress from lymphoid organs to cause lymphopenia, but the clinical implications of FTY-induced lymphopenia are not fully understood. We aimed to determine the frequency and severity of lymphopenia during FTY treatment among Korean patients with multiple sclerosis (MS), and its association with infections.

Methods: We retrospectively reviewed the medical records of patients with MS treated using FTY from 12 referral centers in South Korea between March 2013 and June 2021.

Glial Fibrillary Acidic Protein in Blood as a Disease Biomarker of Neuromyelitis Optica Spectrum Disorders.

Glial fibrillary acidic protein (GFAP) is a type III intermediate filament protein found in astrocytes in the brain. Damaged astrocytes release GFAP into cerebrospinal fluid and blood. Thus, GFAP levels in these body fluids may reflect the disease state of neuromyelitis optica spectrum disorder (NMOSD), which includes astrocytopathy, characterized by pathogenic antibodies against aquaporin 4 located on astrocytes.

Quality of life of patients with multiple sclerosis and neuromyelitis optica spectrum disorders: Cross-sectional and longitudinal analysis.

Background: Multiple sclerosis (MS) and aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders (NMOSD), which have different pathogenic mechanisms, both negatively affect patients during their lifetime. We aimed to analyze and compare the quality of life (QoL) of patients with MS and NMOSD, its longitudinal course, and associated factors between the two diseases.

Methods: Between June 2018 and April 2020, patients with MS and NMOSD who visited a tertiary hospital were prospectively enrolled.

Longitudinal follow-up of serum biomarkers in patients with neuromyelitis optica spectrum disorder.

Background: Recently, several serum biomarkers have been proposed in Neuromyelitis Optica Spectrum Disorders (NMOSD) to monitor disease activity.

Objective: The objective of the study is to evaluate the longitudinal clinical value of serum biomarkers in patients with NMOSD.

Methods: We prospectively recruited consecutive NMOSD patients with anti-aquaporin-4 antibody and obtained serum samples at enrollment, after 6-12 months of follow-up (main period), and at attacks.

Antiplexin D1 Antibodies Relate to Small Fiber Neuropathy and Induce Neuropathic Pain in Animals.

Objectives: To assess the prevalence of antiplexin D1 antibodies (plexin D1-immunoglobulin G [IgG]) in small fiber neuropathy (SFN) and the effects of these antibodies in vivo.

Methods: We developed an ELISA for plexin D1-IgG using a recombinant extracellular domain of human plexin D1 containing the major epitope and sera from 58 subjects previously studied with a standard tissue-based indirect immunofluorescence assay (TBA). We screened 63 patients with probable SFN and 55 healthy controls (HCs) for serum plexin D1-IgG using ELISA.

Deep Learning-Based Method to Differentiate Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis.

Differentiating neuromyelitis optica spectrum disorder (NMOSD) from multiple sclerosis (MS) is crucial in the field of diagnostics because, despite their similarities, the treatments for these two diseases are substantially different, and disease-modifying treatments for MS can worsen NMOSD. As brain magnetic resonance imaging (MRI) is an important tool to distinguish the two diseases, extensive research has been conducted to identify the defining characteristics of MRI images corresponding to these two diseases. However, the application of such research in clinical practice is still limited.

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.

Background: Characteristics of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and cysteine-sparing NOTCH3 mutations are relatively unknown. This study compared clinical and imaging characteristics between patients with CADASIL and cysteine-sparing NOTCH3 mutations and those with CADASIL and cysteine-involving NOTCH3 mutations.

Methods: We retrospectively reviewed medical records of patients with CADASIL admitted to the Asan Medical Center between September 1999 and September 2017.

Clinical implication of serum biomarkers and patient age in inflammatory demyelinating diseases.

Objectives: Serum synaptic proteins levels may change with age-related neurodegeneration, affecting their clinical implications as a disease biomarker. We aimed to investigate neuronal and astroglial markers in patients with multiple sclerosis (MS) and aquaporin-4 antibody-seropositive neuromyelitis optica spectrum disorders (NMOSD) to compare the clinical implications of these markers according to age.

Methods: Using single-molecule array assays, we measured neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in sera from consecutive patients with MS (n = 117) and NMOSD (n = 63).

Choroid plexus changes on magnetic resonance imaging in multiple sclerosis and neuromyelitis optica spectrum disorder.

Objective: To investigate alterations in the choroid plexus in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) using brain magnetic resonance imaging (MRI).

Methods: We prospectively recruited consecutive patients with MS or NMOSD from July 2018 to February 2019. The inclusion criterion was brain MRI within three months from onset of acute neurological symptoms.

Beneficial effects of intravenous immunoglobulin as an add-on therapy to azathioprine for NMO-IgG-seropositive neuromyelitis optica spectrum disorders.

Background: The efficacy of intravenous immunoglobulin (IVIG) in neuromyelitis optica spectrum disorders (NMOSD) has rarely been investigated, despite it being a conceivable therapeutic strategy based on its mode of action. We aimed to evaluate the efficacy of IVIG as an add-on therapy to azathioprine in the prevention of NMOSD relapse.

Methods: We retrospectively reviewed the medical records of NMO-IgG-positive NMOSD patients treated with IVIG infusions (0.

Serum biomarkers in myelin oligodendrocyte glycoprotein antibody-associated disease.

Objective: To test the hypothesis that the pattern of serum biomarkers of disease activity and disability in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) will be different from those in neuromyelitis optica spectrum disorder (NMOSD) with anti-aquaporin-4 antibodies (AQP4-Abs).

Methods: Using ultrasensitive single-molecule array assays, we measured neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and tau in the sera of consecutive patients with MOGAD (n = 16) and NMOSD with AQP4-Ab (n = 33). Serum biomarker levels were compared between patients in relapse and remission states, and correlations between the levels of these biomarkers and Expanded Disability Status Scale (EDSS) scores were analyzed within each group.

Effects of Appointing a Full-Time Neurointensivist to Run a Closed-Type Neurological Intensive Care Unit.

Background And Purpose: To investigate whether appointing a full-time neurointensivist to manage a closed-type neurological intensive care unit (NRICU) improves the quality of critical care and patient outcomes.

Methods: This study included patients admitted to the NRICU at a university hospital in Seoul, Korea. Two time periods were defined according to the presence of a neurointensivist in the preexisting open-type NRICU: the before and after periods.

Efficacy and safety of alemtuzumab in Korean multiple sclerosis patients.

Background: Efficacy and safety profiles of alemtuzumab for relapsing-remitting multiple sclerosis (RRMS) mainly come from Western countries and have not been reported in Asian populations. The aim of this study was to report the efficacy and safety of alemtuzumab for RRMS patients in a Korean population.

Methods: We retrospectively reviewed RRMS patients treated with alemtuzumab.

The clinical and prognostic value of antinuclear antibodies in NMO-IgG seropositive neuromyelitis optica spectrum disorder.

In neuromyelitis optica spectrum disorders (NMOSD), the clinical and long-term prognostic value of antinuclear antibodies (ANAs) is unclear. We analyzed registry data of NMO-IgG seropositive NMOSD patients (n = 74) according to ANA presence. The ANA-positive group (n = 32) demonstrated more frequent other autoantibodies (anti-SSA/Ro, anti-SSB/La, antiphospholipid, and anti-double stranded DNA antibodies) than did the ANA-negative group (n = 42).

Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Background: Anterior temporal lobe hyperintensities detected by brain MRI are a recognized imaging hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Because similar findings may be present in patients with myotonic dystrophy type 1 (DM1), the brain MRI in these two diseases is often misinterpreted. We compared the MRI findings between the two entities to examine whether they display distinctive characteristics.

Abnormal Oculomotor Functions in Amyotrophic Lateral Sclerosis.

Background And Purpose: Although traditionally regarded as spared, a range of oculomotor dysfunction has been recognized in amyotrophic lateral sclerosis (ALS) patients. ALS is nowadays considered as a neurodegenerative disorder of a third compartment comprising widespread areas of extra-motor brain including cerebellum. Our objective was to perform an observational study to examine for ocular motor dysfunction in patients with ALS and for any differences between bulbar-onset and spinal-onset patients.

Factors predicting remission in thymectomized patients with acetylcholine receptor antibody-positive myasthenia gravis.

Introduction: Although thymectomy is an important therapeutic option for myasthenia gravis (MG), factors predicting remission after thymectomy are not well known.

Methods: We retrospectively reviewed patients with acetylcholine receptor antibody (AChR-Ab)-positive MG who had undergone thymectomy. Prognostic factors predicting remission were investigated.

Correction: Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features.

[This corrects the article DOI: 10.1371/journal.pone.

Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features.

Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). There seem to be ethnic and regional differences in the frequency and clinical features of MG seronegative for the AChR antibody. This study aimed to describe the autoantibody profiles and clinical features of Korean patients with generalized MG seronegative for the AChR antibody.