Search

Background: Intravenous immunoglobulin (IVIG) treatment in Guillain-Barré syndrome (GBS) is relatively easy to administer and safe due to infrequent, non-severe side effects. Adverse effects can include skin reactions, the causes of which have not been fully elucidated. In this study, we investigated skin reactions following IVIG treatment for acute inflammatory neuropathy. We examined the relationship between the clinical results in the neuropathy and the clinical profile of skin reactions. Methods: We retrospectively analyzed patients with skin reactions that developed after IVIG treatment in acute immune-mediated or inflammatory neuropathy [GBS or Miller Fisher syndrome (MFS)] based on the dermatologic evaluation. Results: Ninety-six patients with acute inflammatory neuropathy were treated with IVIG during the study period. Thirteen cases (13.5%), with age at onset ranging from 22–69 years (mean, 50.3 years), developed skin reactions after IVIG treatment. The features accompanying skin reactions were hand eczema, including pompholyx (9/13, 82%), generalized eczematous eruption (2/13, 15.4%), and contact dermatitis, including folliculitis. The electrophysiological classification of 11 patients with classical GBS showed that nine patients (81.8 %) had axonal neuropathy, and one (9.1 %) had acute inflammatory demyelinating polyradiculoneuropathy. Conclusions: Eczematous skin reactions or pompholyx are the most common skin reactions following IVIG treatment in axonal GBS. These reactions were relatively minor and recovered well. Although adverse skin reactions to IVIG were usually benign and the precise mechanism of this cutaneous eruption remains unknown, its occurrence within days of IVIG treatment can be managed effectively if recognized by neurologists.

Facial diplegia (FD) rarely occurs as a regional Guillain-Barré syndrome (GBS) variant. A 70-yearold male presented with bifacial weakness that had started on the left side and extended to the right after several days. He was then treated using steroids and gradually improved. Serum antiganglioside antibody testing revealed positivity for anti-GM1 IgG antibodies. FD can be idiopathic, but it is an uncommon GBS variant. The ganglioside antibody test may increase the possibility of diagnosing isolated FD.

Serious neurological complications following coronavirus disease 2019 (COVID-19) vaccination, such as cerebral venous sinus thrombosis or acute disseminated encephalomyelitis, have rarely been reported. Here, we report a case of Guillain-Barré syndrome (GBS) that occurred within 2 weeks of receiving the AstraZeneca ChAdOx1-S/nCoV-19 vaccine. A 61-year-old man presented with weakness and hypesthesia of the legs 9 days after the first dose of the ChAdOx1-S vaccine. The patient progressed to respiratory failure and severe quadriparesis. Nerve conduction studies showed markedly reduced amplitudes of compound muscle action potentials and sensory nerve action potentials in both upper and lower extremities, without definitive evidence of demyelination. The patient was diagnosed with axonal GBS and received intravenous immunoglobulin treatment, with a poor response. This is a rare case of GBS after COVID-19 vaccination in Korea. Physicians should be aware of this rare but serious complication of the COVID-19 vaccine to effectively manage such a situation in clinical practice.

Peripheral facial palsy is often reported after surgery for head or neck tumors and otolaryngologic surgery, but the occurrence of facial nerve palsy after dental procedures is very rare. A 29-year-old man visited our clinic with right-side facial asymmetry and right facial weakness 7 days before. The patient underwent dental treatment 8 days ago. He exhibited weakness of the right side of his face and was unable to close his right eye. He was diagnosed with right-sided peripheral type facial nerve paralysis and treated with an antiviral agent and prednisolone, and the symptoms gradually improved. Facial nerve palsies after dental procedures have been reported in foreign countries, but these cases have been very rarely reported in Korea. We also reported on the efficacy of the conventional treatment of facial nerve palsy after a dental procedure.

To understand the characteristics of Korean patients with anti-HMGCR myopathy, we measured anti-HMGCR antibodies and analyzed clinical, radiological, and pathological features. We measured titers of anti-HMGCR antibodies in the sera of 99 patients with inflammatory myopathy using the enzyme-linked immunosorbent assay. We tested 16 myositis-specific autoantibodies (MSAs) in all patients with anti-HMGCR myopathy. Positivity for the anti-HMGCR antibody was observed in 17 (4 males and 13 females) of 99 patients with inflammatory myopathy. The median age at symptom onset was 60 years. Ten (59%) of the anti-HMGCR positive patients had taken statins. The most common symptoms were proximal muscle weakness in 15 (88%), followed by myalgia in 9 (53%), neck weakness in 4 (24%), dysphagia in 3 (18%), and skin lesions in 2 (12%). The median titer of anti-HMGCR antibody was 202 U/ml. We found eight different MSAs in nine (53%) patients. The median disease duration from symptom onset to diagnosis was significantly shorter in the MSA-positive group than in the MSA-negative group (p = 0.027). In conclusion, our study is the first to measure anti-HMGCR antibodies with inflammatory myopathy, and identify new findings including the coexistence of other MSAs in Korean patients.

Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell death are known to be combined with disturbance of proteostasis, ribonucleostasis and exaggerated neuro-inflammation. Amyotrophic lateral sclerosis is the prototypic disease of MND followed by spinal and bulbar muscular atrophy, spinal muscular atrophy, benign focal amyotrophy and other various diseases. Although diverse spectra of these diseases share common symptoms, significant differences are known in their clinical manifestations and their clinical progression. With increasing number of new clinical trials, the importance of selecting appropriate clinical scales for the monitoring of clinical progression in different types of MNDs should be emphasized. The purpose of this review is to illustrate different types of clinical scales and demonstrate how to utilize these in the clinical research field with consensus. With these efforts, we hope to be ready to understand different kinds of clinical scales in MND in participating global standard clinical trials.

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.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. Patients were classified according to their nadir absolute lymphocyte count (ALC) during treatment: grade 1, 800-999/µL; grade 2, 500-799/µL; grade 3, 200-499/µL; and grade 4,200/µL.FTY treatment was administered to 69 patients with a median duration of 18 months (range=1-169 months), with 11 patients being treated for ≥7 years. During FTY treatment, mean ALCs were reduced after the first month (653.0±268.9/µL, mean±standard deviation) (FTY treatment induced grade-4 lymphopenia in 10% of South Korean patients with MS, but did not appear to be associated with an increased infection risk.

Objectives: Isolated bulbar palsy (IBP) is a rare variant that can show a benign course, while progressive bulbar palsy (PBP) has been regarded as a bulbar-dominant type of classical amyotr...

We aimed to compare seroprevalence of anti-myelin oligodendrocyte glycoprotein (MOG) and anti-aquaporin-4 (AQP4) antibodies in Korean adults with inflammatory demyelinating diseases (IDDs) of the central nervous system (CNS), based on a multicenter nationwide database. Sera were analyzed using a live cell–based assay for MOG and AQP4 antibodies. Of 586 Korean adults with IDDs of the CNS, 36 (6.1%) and 185 (31.6%) tested positive for MOG and AQP4 antibodies, respectively. No participant showed double positivity. Seroprevalence of MOG antibodies was about five times lower than that of AQP4 antibodies in a large cohort of Korean adults with IDDs of the CNS.

Background and purpose The Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS) is a reliable and valid instrument for evaluating the functional status of patients with spinal and bulbar muscular atrophy (SBMA). This study aimed to validate a Korean version of the SBMAFRS in an SBMA population. Methods We applied the SBMAFRS to 64 SBMA patients at their regular follow-up clinical visits. The patients underwent clinical evaluations that included the 6-minute walking test (6MWT), forced vital capacity (FVC), manual muscle test, and the Penetration-Aspiration Scale (PAS). To estimate the stability of the SBMAFRS, the scale was reapplied to a subset of 31 randomly selected patients within 4 weeks of the initial test. The convergent validity was evaluated, and correlations were examined between SBMAFRS items and the muscular force, the total and subscores on the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), FVC, PAS score, age at onset, disease duration, and 6MWT results. Results The internal consistency of the scale was confirmed by a high Cronbach's alpha (total raw alpha=0.867, total standardized alpha=0.863). The test-retest reliability as assessed by Spearman's rho was also high. The total score and subscores of the SBMAFRS were strongly correlated with the respective items and subscores of the ALSFRS-R, respiratory function, and the 6MWT. Conclusions We have performed a validation study of the Korean version of a disease-specific functional rating scale for SBMA patients. The SBMAFRS is a useful tool for clinical practice and as a potential outcome measure for Korean SBMA patients.

Objective To assess the safety and efficacy of 2 repeated intrathecal injections of autologous bone marrow–derived mesenchymal stem cells (BM‐MSCs) in amyotrophic lateral sclerosis (ALS).

Background and ObjectiveTo investigate the clinical relevance of CSF myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG) testing in a large multicenter cohort.MethodsIn this multicenter cohort study, paired serum-CSF samples from 474 patients with suspected inflammatory demyelinating disease (IDD) from 11 referral hospitals were included. After serum screening, patients were grouped into seropositive myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD, 31), aquaporin-4-IgG-positive neuromyelitis optica spectrum disorder (AQP4-IgG + NMOSD, 60), other IDDs (217), multiple sclerosis (MS, 45), and non-IDDs (121). We then screened CSF for MOG-IgG and compared the clinical and serologic characteristics of patients uniquely positive for MOG-IgG in the CSF to seropositive patients with MOGAD.ResultsNineteen patients with seropositive MOGAD (61.3%), 9 with other IDDs (CSF MOG + IDD, 4.1%), 4 with MS (8.9%), but none with AQP4-IgG + NMOSD nor with non-IDDs tested positive in the CSF for MOG-IgG. The clinical, pathologic, and prognostic features of patients uniquely positive for CSF MOG-IgG, with a non-MS phenotype, were comparable with those of seropositive MOGAD. Intrathecal MOG-IgG synthesis, observed from the onset of disease, was shown in 12 patients: 4 of 28 who were seropositive and 8 who were uniquely CSF positive, all of whom had involvement of either brain or spinal cord. Both CSF MOG-IgG titer and corrected CSF/serum MOG-IgG index, but not serum MOG-IgG titer, were associated with disability, CSF pleocytosis, and level of CSF proteins.DiscussionCSF MOG-IgG is found in IDD other than MS and also in MS. In IDD other than MS, the CSF MOG-IgG positivity can support the diagnosis of MOGAD. The synthesis of MOG-IgG in the CNS of patients with MOGAD can be detected from the onset of the disease and is associated with the severity of the disease.Classification of EvidenceThis study provides Class II evidence that the presence of CSF MOG-IgG can improve the diagnosis of MOGAD in the absence of an MS phenotype, and intrathecal synthesis of MOG-IgG was associated with increased disability.

In the early stage of disease, differentiating acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor sensory axonal neuropathy (AMSAN) using only a conventional nerve conduction studies (NCS) may be difficult. We evaluated the differences in the motor axonal excitability properties of 16 cases of sensorimotor Guillain-Barre syndrome by nerve excitability testing (NET). The antiganglioside antibody assay and follow-up NCS resulted in 12 patients diagnosed as AIDP and 4 patients as AMSAN. Clinical and excitability parameters in each group were compared with those in 30 normal controls. Automated NET with threshold tracking techniques was used to calculate the strength-duration time constant (SDTC), threshold electrotonus (TE), current-threshold relationship (CTR), and recovery cycle (RC) of excitability. Except for subtle changes in excitability parameters, AIDP showed no definitive difference relative to normal controls. Comparison between AMSAN and normal controls also revealed no significant differences in the SDTC, TE, and CTR parameters. However, there were clear differences in some of the RC parameters: the relative refractory period was significantly longer in the AMSAN group than in the AIDP group (4.40 ± 1.11 vs. 3.09 ± 1.01 ms, mean ± SEM; p < 0.001), while superexcitability was significantly less prominent in the AMSAN group (-6.80 ± 10.30 vs. -26.48 ± 1.17%, mean ± SEM; p < 0.001). Our study identified that both AIDP and AMSAN were associated with subtle changes in excitability properties. Nonetheless, the prominent increase in refractoriness in AMSAN suggests the presence of a nodal conduction block.

Background and purpose Amyotrophic lateral sclerosis (ALS), a motor neuron disease, is associated with various cortical symptoms including mild cognitive decline with behavior changes, suggesting the involvement of extra-motor areas in ALS. Our aim was to investigate the specific patterns of brain atrophy in sporadic, impaired ALS patients without commonly known genetic mutations using voxel-based morphometry. Materials and methods Forty-seven patients with sporadic ALS and 28 age-matched healthy controls were recruited. ALS participants were divided into three groups according to comprehensive neuropsychological testing: pure (ALS-pure), cognitive impairment (ALSci) and behavioral impairment (ALSbi). Quantitative comparison of brain atrophy patterns was performed amongst these three groups using voxel-based analysis. All analyses were adjusted for total intracranial volume, age, sex, disease duration and functional disability score. Results The ALSci group exhibited decreased volume in the left cerebellum, fusiform gyrus, optic radiations and corticospinal tracts compared to healthy controls. ALSci patient imaging showed decreased brain volume in the bilateral cerebellum, right putamen gray matter and bilateral superior longitudinal fasciculi white matter compared to pure ALS patients (P < 0.001 uncorrected, corrected for the entire volume). Compared to healthy controls, ALS-pure and ALSbi groups did not show any significant volume changes in gray and white matter. Conclusions These findings also support the hypothesis that ALS pathogenesis has a dual focality of onset (cortex and anterior horn) with contiguous spread outwards. Additionally, neuropsychological features may be an important predictor of progression and survival rates in ALS.

This study aimed to measure serum 25-hydroxyvitamin D [25(OH)D] concentrations, bone mineral density (BMD), and the parameters of bone metabolism in amyotrophic lateral sclerosis (ALS) patients, and their correlation with survival.We retrospectively analysed data of 100 ALS patients who consecutively visited a single referral ALS clinic between January and December 2011. Sex; age and site of symptom onset; and death were recorded. Serum 25(OH)D concentration was dichotomized as10ng/ml and ≥10ng/ml.There was absent relationship between serum 25(OH)D and concentration of bone turnover parameters or between 25(OH)D and BMD. According to the results of the Kaplan-Meier analysis with log-rank test, the survival rates of patients without (≥10ng/ml) and of those with severe vitamin D deficiency (10ng/ml) were not significantly different. Cox regression analysis showed that a poor prognosis was most correlated with older age at onset and bulbar onset after adjustment for all the clinical factors.In conclusion, vitamin D levels were not correlated to other bone markers and survival in a clinic population of ALS patients.

Doxifluridine neurotoxicity is more rare than 5-FU neurotoxicity. We report a case of leukoencephalopathy caused by long-term use of doxifluridine and which was resolved after discontinuation. A 37-year-old woman who had been on doxifluridine for 4 months after gastrectomy presented with dysarthria. Diffusion-weighted MRI imaging revealed multifocal hyperintense lesions in subcortical areas. Her symptoms disappeared after discontinuing doxifluridine, and lesions on follow-up MRI were resolved. These findings suggest that doxifluridine is a plausible cause of reversible leukoencephalopathy.

Objective: To categorize a syndrome manifesting as prominent acute bulbar palsy (ABP) without limb motor weakness as a variant form of Guillain-Barre syndrome (GBS) and differentiate it from Miller Fisher syndrome (MFS) and pharyngeal-cervical-brachial (PCB) variants. Methods: We analyzed cases of ABP without limb motor weakness based on a dataset containing clinical information and the results of antiganglioside antibodies assays for acute immune-mediated neuropathies. Results: Eleven cases with an age at onset ranging from 18 to 65 years (mean 33.8 years) were identified as ABP-plus syndrome. All of the enrolled cases manifested with ABP as the predominant symptom, and with no limb weakness. The following features accompanied ABP in order of decreasing frequency: ophthalmoplegia (n = 9, 82%), ataxia (n = 9, 82%), and facial palsy (n = 6, 55%). An enzyme-linked immunosorbent assay study disclosed that immunoglobulin G (IgG) anti-GT1a antibodies were the most frequent (n = 11), followed by IgG anti-GQ1b antibodies (n = 6). Conclusions: We propose that ABP-plus syndrome without neck or limb weakness is a variant of GBS that is distinct from the MFS and PCB variants. The presence of IgG anti-GT1a antibodies can explain the relationships between the distinct clinical characteristics and the underlying pathomechanisms.

This work was supported by the research fund of Hanyang University (HY-2014). Study concept and design: Hee-Jin Kim and Kyoung-Hee Lee. Acquisition of data: Hee-Jin Kim and Hojin Choi. Analysis and interpretation of data: Hee-Jin Kim. Drafting of the manuscript: Jeong-Gun Oh, Young Soon Yang and Hee-Jin Kim. Critical revision of the manuscript: Seung Hyun Kim. Statistical analysis: Seongil Oh.

The objective of this study was to compare the cost of illness of amyotrophic lateral sclerosis (ALS) in the Korean population based on the staging system for ALS from the perspective of both patients and the government. Direct medical costs, care-related costs, and loss of productivity in patients with ALS were measured based on medical records and face-to-face interviews. The patients were divided into groups according to the staging system for ALS, and the cost of illness was analysed. A total of 151 patients with ALS were enrolled in the study. The mean monthly cost of ALS was US $7902 per patient and increased according to the disease stage (stage 2, US $5181; stage 3, US $7089; stage 4, US $10,557). Of direct medical costs (US $3436), 44.8% of the cost burden was carried by patients, and the remaining costs were paid by the government. In conclusion, although the current coverage rate of the National Health Insurance (NHI) system for rare and intractable diseases including ALS is 90%, the rate of direct medical costs paid by patients and out-of-pocket costs remain high. Moreover, coverage rates and cost of illness are closely related with disease severity.