Clinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.

Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurodegenerative disorder initially characterized by facial sensory deficits, which later progress to motor deficits in a rostral-caudal distribution. This study investigated the prevalence, clinical features, and prognosis of FOSMN syndrome and compared these aspects with those of bulbar-onset amyotrophic lateral sclerosis (ALS) within a single institutional cohort of motor neuron diseases. We identified four patients with FOSMN syndrome who had been misclassified as having bulbar-onset ALS, representing approximately 2 % of such ALS cases.

Single-cell analysis reveals expanded CD8 T cells in CSF and shared peripheral clones in sporadic amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons in the brain and spinal cord. Despite the crucial role of aberrant immune responses in ALS pathogenesis, studies investigating immunological profiles in the cerebrospinal fluid (CSF) of patients with ALS have reported inconsistent findings. Herein, we explored the intrathecal adaptive immune response and features of circulating T cells between CSF and blood of patients with ALS using single-cell RNA and T-cell receptor (TCR) sequencing.

Validation of the Korean version of inflammatory Rasch-built Overall Disability Scale in patients with inflammatory neuropathy.

Background And Aims: The Inflammatory Rasch-built Overall Disability Scale (I-RODS) is an effective activity measure for use in inflammatory peripheral neuropathy. The aim of this study was to validate the Korean version of the I-RODS in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), Guillain-Barré syndrome (GBS), anti-myelin-associated glycoprotein (MAG) neuropathy, and autoimmune nodopathy.

Methods: A total of 120 patients underwent clinical evaluations, which included the I-RODS, Inflammatory Neuropathy Cause and Treatment (INCAT) assessment, and Jamar grip strength (kg) measurement.

Erratum: Development and Validation of the Korean Version of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS-K).

This corrects the article on p. 454 in vol. 19, PMID: 37488957.

Association of serum Spp1 levels with disease progression in ALS and SBMA.

Objective: In comparison with amyotrophic lateral sclerosis (ALS), the contribution of neuroinflammation in spinobulbar muscular atrophy (SBMA) has been less explored. We investigated the role of neuroinflammation in the pathogenesis of ALS and SBMA by analyzing systemic inflammatory markers and osteopontin (Spp1).

Methods: This study involved 105 ALS, 77 SBMA, and 55 healthy controls.

Burden and preparedness of care partners of people living with amyotrophic lateral sclerosis at home in Korea: A care partner survey.

Introduction/aims: The care burden of people living with amyotrophic lateral sclerosis (pALS) increases with disease progression. This study aimed to investigate the home care status and preparedness of care partners of pALS (cALS) in Korea.

Methods: An online survey was conducted with family care partners of patients diagnosed with ALS for over 1 year in 2022.

Factors associated with adherence to noninvasive positive pressure ventilation in amyotrophic lateral sclerosis.

Introduction: This cohort study aimed to investigate the factors associated with noninvasive positive pressure ventilation adherence and assess the long-term effects of noninvasive positive pressure ventilation adherence in patients with amyotrophic lateral sclerosis (ALS).

Methods: The medical records of patients with ALS admitted to a tertiary hospital for noninvasive positive pressure ventilation initiation were retrospectively reviewed. Pulmonary function parameters, variables of blood gas analysis, the site of symptom onset, the time from onset and diagnosis to noninvasive positive pressure ventilation application, ALS Functional Rating Scale-Revised, neurophysiological index, and the length of hospital stay were evaluated.

Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea.

: Tracheostomy invasive ventilation (TIV) is applied to a subset of amyotrophic lateral sclerosis (ALS) patients; however, its frequency and impact on prognosis vary across countries. : We conducted a nationwide retrospective cohort study using Korean National Health Insurance claims data. All patients diagnosed with sporadic ALS from 2012 to 2017 were included, with the observation period until 2020.

Effect of altered gene expression in lipid metabolism on cognitive improvement in patients with Alzheimer's dementia following fecal microbiota transplantation: a preliminary study.

Background: The brain-gut axis has emerged as a potential target in neurodegenerative diseases, including dementia, as individuals with dementia exhibit distinct gut microbiota compositions. Fecal microbiota transplantation (FMT), the transfer of fecal solution from a healthy donor to a patient, has shown promise in restoring homeostasis and cognitive enhancement.

Objective: This study aimed to explore the effects of FMT on specific cognitive performance measures in Alzheimer's dementia (AD) patients and investigate the relationship between cognition and the gut microbiota by evaluating changes in gene expression following FMT.

Healthcare Utilization and Supportive Care Timing in South Korean People Living With Amyotrophic Lateral Sclerosis: A Single-Center Retrospective Study.

Background And Purpose: Despite the growing demands and challenges faced by patients with amyotrophic lateral sclerosis (ALS) in accessing healthcare services, our understanding of this access remains poor. This study aimed to investigate the healthcare utilization patterns and timing of nutritional and respiration support in patients with ALS in South Korea.

Methods: A retrospective cohort study was conducted on patients diagnosed with ALS at a single tertiary hospital between 2016 and 2019 and followed up for 2 years.

Subclinical articulatory changes of vowel parameters in Korean amyotrophic lateral sclerosis patients with perceptually normal voices.

The available quantitative methods for evaluating bulbar dysfunction in patients with amyotrophic lateral sclerosis (ALS) are limited. We aimed to characterize vowel properties in Korean ALS patients, investigate associations between vowel parameters and clinical features of ALS, and analyze subclinical articulatory changes of vowel parameters in those with perceptually normal voices. Forty-three patients with ALS (27 with dysarthria and 16 without dysarthria) and 20 healthy controls were prospectively collected in the study.

Epidemiology and characteristics of emergency department utilization by patients with amyotrophic lateral sclerosis in Korea from 2016 to 2020: A nationwide study.

Introduction/aims: Patients with amyotrophic lateral sclerosis (ALS) inevitably visit the emergency department (ED) due to their increased risk of respiratory failure and mobility limitations. However, nationwide data on ED visits by patients with ALS are limited. This study investigated the characteristics of patients with ALS-related ED visits.

Development and Validation of the Korean Version of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS-K).

Background And Purpose: Cognitive and behavioral changes are common in amyotrophic lateral sclerosis (ALS), with about 15% of patients presenting with overt frontotemporal dementia and 30%-50% with varying degrees of impairments. We aimed to develop and validate the Korean version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS-K), a brief multidomain assessment tool developed for ALS patients with physical disability.

Methods: We developed the ECAS-K according to the translation guidelines, and administered it to 38 patients with ALS and 26 age- and education-level-matched controls.

AXLSIGLEC6 dendritic cells in cerebrospinal fluid and brain tissues of patients with autoimmune inflammatory demyelinating disease of CNS.

Inflammatory demyelinating disease of the CNS (IDD) is a heterogeneous group of autoimmune diseases, and multiple sclerosis is the most common type. Dendritic cells (DCs), major antigen-presenting cells, have been proposed to play a central role in the pathogenesis of IDD. The AXLSIGLEC6 DC (ASDC) has been only recently identified in humans and has a high capability of T cell activation.

Small RNA sequencing of circulating small extracellular vesicles microRNAs in patients with amyotrophic lateral sclerosis.

Dysregulation of microRNAs (miRNA) in small extracellular vesicles (sEV) such as exosomes have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). Although circulating cell-free miRNA have been extensively investigated in ALS, sEV-derived miRNAs have not been systemically explored yet. Here, we performed small RNA sequencing analysis of serum sEV and identified 5 differentially expressed miRNA in a discovery cohort of 12 patients and 11 age- and sex-matched healthy controls (fold change > 2, p < 0.

National prescription patterns of antidepressants among patients with amyotrophic lateral sclerosis: An analysis of the Korean National Health Insurance database.

Introduction/aims: The current status of antidepressant use in patients with amyotrophic lateral sclerosis (ALS), such as the prevalence and factors associated with it, has not been systematically investigated. We aimed to analyze the prevalence and patterns of antidepressant prescriptions in patients with ALS and depression, and to identify factors associated with antidepressant prescriptions after the diagnosis of ALS.

Methods: The data of patients with ALS and the prescription of antidepressants were retrieved from the Korean National Health Insurance claims data.

Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study.

There is accumulating evidence about an association between amyotrophic lateral sclerosis (ALS) and psychiatric disorders. We aimed to investigate the prevalence of previous psychiatric disorders before ALS onset and evaluate the contribution of psychiatric disorders to the number of steps toward developing ALS. We analyzed the National Health Insurance claims data from 2011 to 2017 and calculated the incidence of ALS.

Thromboembolic complications following intravenous immunoglobulin therapy in immune-mediated neurological disorders.

Background: Minor adverse events of intravenous immunoglobulin (IVIg) include flu-like symptoms, eczematous skin reaction, electrolyte disturbance, and transient leukopenia. On rare occasions, serious complications such as aseptic meningitis, arrhythmia, decrease in blood pressure, and thromboembolic complications (TEC) have been described. The current study aimed to understand the frequency and clinical features of TEC related to IVIg administration in patients with immune-mediated neurological disorders.

EBI2-expressing B cells in neuromyelitis optica spectrum disorder with AQP4-IgG: Association with acute attacks and serum cytokines.

Epstein-Barr virus-induced G-protein coupled receptor 2 (EBI2) is important in regulating B cell activation. We investigated whether EBI2 expression on B cells is associated with acute attacks in neuromyelitis optica spectrum disorder with aquaporin-4 IgG (AQP4-IgG(+) NMOSD). Blood samples were collected from patients with AQP4-IgG(+) NMOSD, multiple sclerosis (MS), and patients without inflammatory demyelinating diseases (non-IDD controls).

The seasonal pattern of restless legs syndrome in a sample from the Korean Health Insurance Review and Assessment Service national database.

Study Objectives: To assess the seasonality of restless legs syndrome (RLS) using data from the Korean national health insurance database.

Methods: We retrospectively reviewed a randomly selected sample representing 3% of the national health insurance claims database in South Korea. From this sample, we obtained the monthly numbers of patients with RLS and diagnoses from 2009 to 2016, along with prescriptions for monthly dopamine agonists and clonazepam for patients with RLS from 2009 to 2013.