Clinical and Radiological Features of Korean Patients With Anti-HMGCR Myopathy

Background@#and Purpose To understand the characteristics of Korean patients with anti-3-hydroxy-3-methylglutaryl-coenxyme A reductase (HMGCR) myopathy, we measured antiHMGCR antibodies and analyzed the clinical, radiological, and pathological features of patients with anti-HMGCR myopathy. @*Methods@#We measured titers of anti-HMGCR antibodies in the sera of 99 patients with inflammatory myopathy, 36 patients with genetic myopathy, and 63 healthy subjects using an enzyme-linked immunosorbent assay. We tested 16 myositis-specific autoantibodies (MSAs) in all patients with anti-HMGCR myopathy. @*Results@#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 patients with anti-HMGCR positivity had taken statins. The titer of antiHMGCR antibodies was significantly higher in the statin-naïve group (median=230 U/mL, interquartile range=170–443 U/mL) than in the statin-exposed group (median=178 U/mL, interquartile range=105–210 U/mL, p=0.045). The most common symptom was proximal muscle weakness in 15 patients (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). @*Conclusions@#Our study was the first to measure anti-HMGCR antibodies in inflammatory myopathy. It has provided new findings, including the suggestion of the coexistence of other MSAs in Korean patients.

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. We also administered the Montreal Cognitive Assessment (MoCA) and Frontal Assessment Battery (FAB) to investigate convergent validity, and the Center for Neurologic Study-Liability Scale to assess the association between pseudobulbar affect and cognitive/behavioral changes. @*Results@#Internal consistency among the ECAS-K test items was found to be high, with a Cronbach’s alpha of 0.87. Significant differences were found between patients with ALS and the controls in language, fluency, and memory functions (p<0.05). Abnormal performance based on the ECAS total score was noted in 39.4% of patients, and 66.6% presented behavioral changes in at least one domain. Significant correlations were observed between the scores of the ECAS-K and those of other cognitive screening tools (MoCA and FAB, with correlation coefficients of 0.69 and 0.55, respectively; p<0.01). @*Conclusions@#We developed and validated the ECAS-K which could be used as an effective tool to screen the cognitive and behavioral impairments in Korean patients with ALS.

Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy

Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a representative hereditary adult-onset leukoencephalopathy associated with vasculopathy. Leukoencephalopathy in spastic paraplegia type 4 (SPG4) is known to be rare, but it might be underestimated because most spastic paraplegia with leukoencephalopathy is rarely considered. We report a case of co-occurring SPG4 and CADASIL. A 61-year-old male presented with sudden visual impairment after a headache. He showed a spastic gait and had a family history with similar symptoms. An SPG4 gene mutation and a pathogenic variant in the NOTCH3 gene were found. This case shows that the diverse and complex clinical manifestations of patients with extensive leukoencephalopathy are related to more than one gene mutation. We also suggest the necessity for relevant genetic tests in the diagnosis of adult-onset leukoencephalopathy.

Clinical Practice Guideline for Dementia (Diagnosis and Evaluation):2021 Revised Edition

no abstract available.

Peripheral Facial Palsy after Dental Procedure / 대한신경근육질환학회지

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.

Clinical Scales Used in Motor Neuron Disease

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.

Clinical Scales Used in Motor Neuron Disease

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.

Reliability and Validity of the Korean Version of the Spinal and Bulbar Muscular Atrophy Functional Rating Scale

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.

Current Status of Bariatric and Metabolic Surgery in Daejeon and Chungcheong Province: Early Experiences after Public Medical Insurance Coverage in 2019

Purpose@#This study aimed to investigate the current status of bariatric and metabolic surgery in Daejeon and Chungcheong province and to describe the early experiences after public medical insurance coverage in 2019. @*Materials and Methods@#Between January 2019 and August 2019, 64 cases of bariatric and metabolic surgery were performed in patients with morbid obesity or uncontrolled type 2 diabetes. We prospectively collected and analyzed data regarding the patients’ demographics and comorbidities, surgical results, and early complications. The patient information before and after the insurance coverage was also compared. @*Results@#The number of surgeries in 9 years has been caught up only in the last 8 months after insurance coverage (58 vs. 64 patients). The mean body mass index was 37.7±5.8 kg/m2 (range, 22.7-52.1 kg/m2). The most frequently performed surgery was sleeve gastrectomy (53 cases, 82.8%), followed by Roux-en-Y gastric bypass (9 cases, 14.1%), and adjustable gastric banding (2 cases, 3.1%). Postoperative complications occurred in 6 patients (9.4%), and there was no mortality. The mean operation time (225.3±85.4 vs. 156.1±61.8 min, P＜0.001) and postoperative stay (5.9±4.5 vs. 4.3±2.0 days, P=0.013) after the insurance coverage were significantly shorter than those before the insurance coverage. @*Conclusion@#We could assess the patients who had bariatric and metabolic surgery in Daejeon and Chungcheong province after public medical insurance coverage in 2019.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Novel CSF1R Mutation

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a subtype of dominantly inherited leukoencephalopathies caused by novel CSF1R gene mutation predominantly affecting the cerebral white matter. High signal lesions on diffusion weighted image (DWI) are characteristic. Herein, we describe a patent with ALSP with a novel mutation. The patient had persistent DWI lesions, worsening white matter changes associated with rapidly progressive clinical symptoms.

Isolated infraspinatus atrophy due to suprascapular neuropathy presenting as abnormal shoulder posture

@#Isolated infraspinatus atrophy is rare and difficult to confirm based on physical examination, although external rotation lag signs may provide a clue to the diagnosis. We present a case of isolated infraspinatus weakness caused by suprascapular neuropathy presenting as abnormal shoulder posture.

Current Status of Metabolic and Bariatric Surgery in Daejeon/Chungcheong Area

PURPOSE: The aim of our study is to investigate the current status of metabolic and bariatric surgery in Daejeon and Chungcheong province and examine the role and necessity of the community research society. MATERIALS AND METHODS: In this retrospective study, 58 patients who underwent bariatric and metabolic surgery from January 2010 to June 2018 were included. Patients' demographics and comorbidities, operation type and early complications were analyzed. RESULTS: Mean age was 36.9±11.4 (range, 18–64) years, and mean preoperative body mass index was 39.2±6.9 (range, 24.6–56.1) kg/m². The most frequently performed operation was sleeve gastrectomy (48 cases, 82.8%), followed by adjustable gastric banding (8 cases, 13.8%) and Roux-en-Y gastric bypass (2 cases, 3.4%). Postoperative complications were reported in two patients; however, no mortality was reported. CONCLUSION: We investigated the patients who underwent metabolic and bariatric surgery in Daejeon Chungcheong province. Our research society will continue to ensure safe operation and proper management of morbidly obese patients in our community.

Neuroanatomical correlates of depressive symptoms in newly diagnosed Parkinson’s disease patients

@#Objective: Depression is the most frequent neuropsychiatric manifestation in Parkinson’s disease (PD). Although evidence suggests that depression in PD is related to the degenerative process that underlies the disease, a complete understanding of neural substrates has yet to be achieved. To investigate the neuroanatomical changes underlying depression in PD, we conducted a surface-based morphometry (SBM) study in de novo, drug-naïve Parkinson’s disease patients with and without depression. Methods: We studied thirty-one patients with idiopathic, de novo, drug-naïve PD. Patient clinical characteristics, including age, sex, disease duration, Hoehn and Yahr stage, UPDRS part III, and brief neuropsychological testing, were assessed. Sixteen Parkinson’s disease patients with depression (PD-D) were defined as patients with abnormal geriatric depressions scales (> 17 points), and fifteen patients had Parkinson’s disease without depression (PD-ND). The SBM analysis of cortical thickness was performed to determine the difference between the PD-D and PD-ND groups. Results: There were no differences in terms of clinical characteristics between the PD-D and PD-ND groups, but the level of education in the PD-ND was higher than that in the PD-D. The cortical thickness was significantly decreased in the left anterior cingulate and left precentral gyrus in the PD-D group compared to the PD-ND group. Conclusion: Depression in Parkinson’s disease is associated with the left anterior cingulate and left precentral gyrus region reduced cortical thickness

An Unusual Case of Bilateral Meralgia Paresthetica Following Femoral Cannulations / 신경중재치료의학

Meralgia paresthetica (MP) is a sensory mononeuropathy of the lateral femoral cutaneous nerve (LFCN). MP has rarely been reported after a femoral intervention approach. We report a case of bilateral meralgia paresthetica following bilateral femoral cannulation. A 64-year-old male received cardiac catheterization and treatment via a bilateral femoral vein. After cardiac catheterization, the patient presented with paresthesia in the anterolateral aspect of the bilateral thigh. After performing nerve conduction studies and electromyography, he was diagnosed as MP. Although a bilateral LFCN lesion following a femoral approach is very rare, MP might require caution regarding potential variations in LFCN when performing the femoral approach.

Impaired Perception of Emotional Expression in Amyotrophic Lateral Sclerosis

BACKGROUND AND PURPOSE: The increasing recognition that deficits in social emotions occur in amyotrophic lateral sclerosis (ALS) is helping to explain the spectrum of neuropsychological dysfunctions, thus supporting the view of ALS as a multisystem disorder involving neuropsychological deficits as well as motor deficits. The aim of this study was to characterize the emotion perception abilities of Korean patients with ALS based on the recognition of facial expressions. METHODS: Twenty-four patients with ALS and 24 age- and sex-matched healthy controls completed neuropsychological tests and facial emotion recognition tasks [ChaeLee Korean Facial Expressions of Emotions (ChaeLee-E)]. The ChaeLee-E test includes facial expressions for seven emotions: happiness, sadness, anger, disgust, fear, surprise, and neutral. RESULTS: The ability to perceive facial emotions was significantly worse among ALS patients performed than among healthy controls [65.2±18.0% vs. 77.1±6.6% (mean±SD), p=0.009]. Eight of the 24 patients (33%) scored below the 5th percentile score of controls for recognizing facial emotions. CONCLUSIONS: Emotion perception deficits occur in Korean ALS patients, particularly regarding facial expressions of emotion. These findings expand the spectrum of cognitive and behavioral dysfunction associated with ALS into emotion processing dysfunction.

Impaired Perception of Emotional Expression in Amyotrophic Lateral Sclerosis

BACKGROUND AND PURPOSE: The increasing recognition that deficits in social emotions occur in amyotrophic lateral sclerosis (ALS) is helping to explain the spectrum of neuropsychological dysfunctions, thus supporting the view of ALS as a multisystem disorder involving neuropsychological deficits as well as motor deficits. The aim of this study was to characterize the emotion perception abilities of Korean patients with ALS based on the recognition of facial expressions. METHODS: Twenty-four patients with ALS and 24 age- and sex-matched healthy controls completed neuropsychological tests and facial emotion recognition tasks [ChaeLee Korean Facial Expressions of Emotions (ChaeLee-E)]. The ChaeLee-E test includes facial expressions for seven emotions: happiness, sadness, anger, disgust, fear, surprise, and neutral. RESULTS: The ability to perceive facial emotions was significantly worse among ALS patients performed than among healthy controls [65.2±18.0% vs. 77.1±6.6% (mean±SD), p=0.009]. Eight of the 24 patients (33%) scored below the 5th percentile score of controls for recognizing facial emotions. CONCLUSIONS: Emotion perception deficits occur in Korean ALS patients, particularly regarding facial expressions of emotion. These findings expand the spectrum of cognitive and behavioral dysfunction associated with ALS into emotion processing dysfunction.

Delayed Isolated Hypoglossal Nerve Palsy after Submandibular Gland Surgery

No abstract available.

Acute Myeloradiculitis Associated with Herpes Simplex Virus Type 2 Presenting with Acute Flaccid Paralysis

We describe two patients with acute myeloradiculitis associated with herpes simplex virus type 2 (HSV-2). They were previously healthy and immunocompetent and had no history of herpes infection or rash. Myeloradiculitis manifested as an acute flaccid paralysis that primarily involved the conus medullaris and cauda equina. laccid paralysis can be caused by HSV-2 myeloradiculitis, and so early antiviral treatment should be considered.

Reversible Leukoencephlaopathy Caused by Doxifluridine in a Patient with Gastric Cancer

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.

Prognostic Role of Serum Levels of Uric Acid in Amyotrophic Lateral Sclerosis

BACKGROUND AND PURPOSE: It has been suggested that oxidative stress is one of the pathomechanisms underlying amyotrophic lateral sclerosis (ALS), and thus antioxidants such as uric acid (UA) that could reduce oxidative stress might be beneficial in the prevention or treatment of this disease. The objective of this study was to prospectively investigate serum UA levels in Korean ALS patients and to relate them to disease progression. METHODS: ALS patients and healthy controls who were individually well-matched for sex, age, and body mass index (BMI) underwent blood testing for serum UA levels, and analyzed whether UA levels were correlated with the disease status of the patients, as defined by the ALS Functional Rating Scale-Revised (ALSFRS-R). RESULTS: The study included 136 ALS patients and 136 matched controls. The UA level was lower in the ALS patients (4.50+/-1.17 mg/dL, mean+/-SD) than in the controls (5.51+/-1.22 mg/dL; p<0.001). Among the ALS patients, the level of UA acid was inversely correlated with the rate of disease progression (decrease in ALSFRS-R score). Kaplan-Meier analysis revealed that a better survival rate was more strongly correlated with top-tertile levels of serum UA than with bottom-tertile levels (log-rank test: p=0.035). CONCLUSIONS: ALS patients had lower serum UA levels than did healthy individuals. UA levels in ALS were negatively correlated with the rate of disease progression and positively associated with survival, suggesting that UA levels contribute to the progression of ALS. UA levels could be considered a biomarker of disease progression in the early phase in ALS patients.