Valosin-containing protein (VCP)-related multisystem proteinopathy (MSP1) is a rare genetic disorder marked by abnormal protein accumulation. This study presents the case of a 52-year-old woman with MSP1, showing progressive weakness, gait disturbances, and respiratory muscle weakness over five years. The clinical examination revealed diverse presentations, including neurogenic changes in electrophysiologic study, multifocal fatty changes of muscle, and cognitive impairment with a confirmed VCP gene mutation through genetic testing. Notably, we identified lobulated myofibers in the muscle biopsy, an unusual finding in MSP1. This is the first report of lobulated myofibers in MSP1 with multisystem involvement. Identifying unique muscle biopsy results in suspected MSP1 patients through careful neurological examinations and timely genetic testing may help in early diagnosis and appropriate management.

Bell's palsy is one of the most common outpatient problems in neurologic clinics. The diagnosis of Bell's palsy is typically made through clinical evaluation. Characteristic findings include the acute onset of unilateral lower motor neuron facial paralysis, reaching its peak within 72 hours. However, there are numerous diagnostic pitfalls related to the differential diagnosis, including neoplasms, autoimmune disorders, trauma, and infections. For an accurate diagnosis, recognizing the anatomical background and identifying atypical clinical features of Bell's palsy is crucial. Oral steroids are considered the optimal treatment, and antiviral agents may play a beneficial role. Even without treatment, the prognosis for Bell's palsy is generally favorable, but long-standing sequelae are also possible and should be considered for functional, aesthetic, and psychological aspects.

In cases of hyponatremia induced by brain damage, it is important to distinguish between the syndrome of inappropriate anti-diuretic hormone secretion (SIADH) and cerebral salt wasting syndrome. A ventriculoperitoneal (VP) shunt is the standard treatment for hydrocephalus, and external lumbar drainage (ELD) is an option to evaluate the effect of a VP shunt. However, ELD has potential complications, such as subarachnoid hemorrhage, meningitis, and rarely hyponatremia. Therefore, we report a case of a patient with cerebral salt-wasting syndrome resulting from ELD to treat normal-pressure hydrocephalus during the rehabilitation of acute ischemic stroke.

Citations

• Cerebral Salt Wasting Syndrome in a Patient with Normal Pressure Hydrocephalus with Possible Change in Pressure Setting of Adjustable Shunt by Metal Detector
  Arghya Majumdar, Simmy Tiwari
  Indian Journal of Critical Care Case Report.2025; 4(2): 54.     CrossRef
• Cerebrospinal fluid overdrainage as a potential overlooked cause of SIAD-induced hyponatremia? A case report
  Sanghamitra Sarma, Ankur Khandelwal, Priyadarshi Dikshit, Anirban Bhattacharjee
  JCA Advances.2025; 2(2): 100105.     CrossRef

The newly identified frontal aslant tract (FAT) that connects the posterior Broca’s area to the supplementary motor area is known to be involved in speech and language functions. We successfully intraoperatively monitored FAT using cortico-cortical evoked potentials generated by single-pulse electrical cortical stimulation in a patient with oligodendroglioma.

Citations

• Developmental trajectory of transmission speed in the human brain
  Dorien van Blooijs, Max A. van den Boom, Jaap F. van der Aar, Geertjan M. Huiskamp, Giulio Castegnaro, Matteo Demuru, Willemiek J. E. M. Zweiphenning, Pieter van Eijsden, Kai J. Miller, Frans S. S. Leijten, Dora Hermes
  Nature Neuroscience.2023; 26(4): 537.     CrossRef

Glycogen storage disease (GSD) type V, also known as McArdle’s disease, is an autosomal recessive genetic disease caused by a mutation of the PYGM gene related to the synthesis of the myophosphorylase enzyme. Here, we presented the case of an 83-year-old woman who was admitted for progressively worsening weakness of her legs due to rhabdomyolysis after a COVID-19 vaccination. In the muscle biopsy, myopathy with subsarcolemmal glycogen accumulation was revealed and she was diagnosed with a mild form of GSD type V. Although COVID-19 vaccines are generally safe and encouraged for everyone, adverse events following COVID-19 vaccinations are increasing. We should pay attention to the side effects of COVID-19 vaccination including rhabdomyolysis.

Citations

• COVID-19 Vaccine Side Effect Analysis by Leveraging Social Media: Focusing on Connectivity and Cluster Characteristics of Vaccine Side Effects
  Sunguk Yun, Jaekyun Jeong, Jungeun Kim
  IEEE Transactions on Computational Social Systems.2024; 11(5): 6487.     CrossRef

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

Persistent left superior vena cava (PLSVC) is a common venous anomaly of the thorax and usually drains into the right atrium. Less often it drains into the left atrium and has previously been related to ischemic stroke. We report a case of PLSCV that founded during ischemic stroke evaluation in a 77-year-old woman which was detected on transesophageal echocardiography (TEE) and transcranial Doppler ultrasonography (TCD) with saline agitated test and computed tomography.

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.

Background
Viruses can cause either meningitis or encephalitis. It is unclear why some people suffer from aseptic meningitis, and others acquire aseptic encephalitis when infected with the same viral pathogens. The aim of this study was to compare demographic and laboratory factors between patients with aseptic meningitis and encephalitis. Methods: The demographic and laboratory differences were analyzed according to age, sex, diabetes, hypertension, C-reactive protein in the blood, white blood cell and protein in the cerebrospinal fluid, and glucose ratio (cerebrospinal fluid/blood). Additionally, we analyzed the nation-wide differencesin age between the patients with aseptic meningitis and those with encephalitis in Korea. Results: The patients with aseptic encephalitis were older, more likely to have hypertension, and had higher levels of C-reactive protein than did the patients with aseptic meningitis. However, the numbers of white blood cells in the cerebrospinal fluid were significantly higher in the patients with meningitis than in the patients with encephalitis. Multivariable analysis revealed that age >49 years, hypertension and a C-reactive protein level >5.81 mg/dL were independent and significant variables in the prediction of aseptic encephalitis. Additionally, the patients with aseptic encephalitis were older than those with aseptic meningitis in the nation-wide Korean database. Conclusions: Older age, hypertension, and higher levels of C-reactive protein are useful factors for the prediction of aseptic encephalitis.

Background: Diffusion-weighted image (DWI) might be useful to predict the prognosis of acute hypoxic encephalopathy. The aim of our study was to test whether the early change and extent of DWI abnormalities can be an indicator of the clinical outcome of hypoxic encephalopathy. Methods: Forty-four patients who were diagnosed as hypoxic encephalopathy due to the cardiorespiratory arrest were retrospectively identified. Clinical variables were determined, and the DWI abnormalities were counted by four areas: cortex, subcortical white matter, cerebellum and deep grey matter, and were divided into three groups by the extent of lesions. Prognosis was classified as 'poor' (Glasgow coma scale (GSC) at 30 days after arrest <9 or death) and 'good' (GSC at 30 days after arrest ≥9). Results: GCS at day 3 (p<0.001), presence of seizure (p=0.01), and presence of lesion (p<0.001) were significantly different in prognosis, but statistically there is no association with the extent of lesions and prognosis (p=0.26). Conclusions: Presence of early DWI changes could predict the clinical outcome of hypoxic encephalopathy after cardiorespiratory arrest.

Vasoconstriction of intracerebral arteries is the leading cause of delayed cerebral infarction and mortality following aneurysmal subarachnoid hemorrhage. Transcranial Doppler studies show and increase in the flow velocities of basal cerebral arteries, which usually start around day 4 following a subarachnoid hemorrhage, and peaking by days 7 to 14. Angiographic studies confirm the presence of at least some degree of MCA vasospasm when the flow velocities are higher than 100 cm/sec. Mean velocities in the 120 to 200 cm/sec range correspond to 25 to 50% luminal narrowing. MCA and ACA vsospasm is detected with around 90% specificity. Sensitivity is 80% and 50% respectively. A 200cm/sec threshold and rapid flow velocity increase exceeding 50 cm/sec on consecutive days, has been associated with subsequent infarction. Transcranial Doppler is also used to monitor the effects of endovascular treatment of vasospasm. Flow velocities decrease following successful angioplasty or papaverine infusion. Overall, transcranial Doppler studies are considered to have acceptable accuracy for the evaluation of vasospasm in aneurysmal subarachnoid hemorrhage, with limitations that have to be taken into consideration in the clinical setting.

Background
ad Aims : Nerve conduction study is invaluable in clinical neurology, especially for assessing peripheral neuropathies. Abnormal nerve conduction studies may result not only from peripheral nerve dysfunction itself, but also from other various mechanical, technical, and physiological factors such as age, sex, height and temperature. So we conducted this study to establish the our own normal values. Methods : In this study, from March. 1997 to July. 1998, 40 Korean adults among person came to Health Promotion extremity and distal segments. Physiological factors such as age, height and temperature affect the results of nerve conduction studies in multiple regression analysis. The sex difference is recognized over peroneal motor nerve. There are no sex difference in amplitude transformed into normal distribution. The significant physiological factor affecting

Background
: Carpal tunnel syndrome(CTS) is the most common entrapment neuropathy that refers to a group of signs and symptoms resulting from compression of the median nerve at the wrist. The course of CTS on older patients is different from the younger patients. This difference may be the result of different underlying mechanisms. The different nerve conduction studies of CTS may signify different approaches in management. This study was done to assess the differences in nerve conduction study of CTS I younger and older patients. Methods : This study involved 224 patients who visited Gachon Medical School, Gil Medical Center and was diagnosed by nerve conduction study from October 1997 to October 1999. We compared the results of nerve conduction study to age, especially in between those under 60 years and those 60 years or over CTS patients. Nerve conduction study consists of motor studies of both median nerve(terminal latency, compound action potential) and sensory studies(nerve conduction velocity, nerve action potential). And we also evaluated the variable between younger and older patients group. Those variables include sex, symptom period, laterality, abnormal physical findings and radiculopathy. Results : We found that a significant increase of terminal latency(p<0.1), but a decrease in compound motor action potential(p<0.05) in older patient's group. There was no significant differences in sensory nerve conduction velocity and action potential between those under 60 years and those 60 years or even patients. And also there was no significant difference in sex, symptom period, laterality, abnormal physical findings, radiculopathy between older and younger patients. Conclusions: This study showed a significant increase in the terminal latency and a decrease I compound action potential in older patients. The different nerve conduction studies of CTS by age effect may need different approaches in management.

Electroencephalography(EEG) involves the recording and analysis of electrical signals generated by brain. Resolution of true electrical brain activity requires three elements: good equipment, meticulous recording technique, and informed interpretation of data. Every electroencephalographer should be familiar with the science and engineering underlying clinical EEG. This article reviews principle of EEG instrument & methods of recording; History of EEG, EEG instrument, EEG amplifier & its control, Calibration, Electrode, Electrode placement, Montage, and Electrical safety.

Background
Essential tremor (ET) is a common movement disorder that often causes functional disability. There have been very few investigations about the clinical characteristics of ET in Korea. Therefore, we performed a study showing the clinical features and electrophysiological findings of ET.
Methods: We analyzed medical records and accelerometry data of 152 patients (male vs female; 79 vs 73) with ET, who visited the Neurology Clinic of Hospital from 2000 to 2003. Clinical characteristics of ET were summarized including the age of onset, family history, tremor type, body part involved, and associated symptoms. The frequency of tremor was recorded and the spectral analysis of tremor was performed.
Results: The age of tremor onset showed bimodal distribution with peaks in the 2nd and 5th decades. Family history was found in 46 patients (30.3%). The patients with the family history presented earlier onset of tremor than patients without the history (mean age of onset, y: 35.2 vs. 49.9, P < 0.001). Tremor appeared most frequently in hands (94%), and followed by head (25%). In head tremor,

Periodic lateralized epileptiform discharges(PLEDs) are usually seen in acute and subacute cerebral lesions. Occasionally PLEDs could be observed in persistent structural lesions. We observed PLEDs-plus in a patient with right basal ganglionic hemorrhage, at 10 months and 13 months after the stroke. The patients suffered two seizures 3 months and 5 days before recording of EEG. PLEDs-plus may persist as an interictal abnormal finding and the rhythmic dischargeof that may be increased by a seizure.

Background
s: MEG can measure the task-specific neurophysiologic activity with good spatial and time resolution. Language lateralization using noninvasive method has been a subject of interest in resective brain surgery. We purposed to develop a paradigm for language lateralization using MEG and validate its feasibility.
Methods: Magnetic fields were obtained in 12 neurosurgical candidates and one volunteer for language tasks, with a 306 channel whole head MEG. Language tasks were word listening, reading and picture naming. We tested two word listening paradigms:semantic decision of meaning of abstract nouns, and recognition of repeated words. The subjects were instructed to silently name or read, and respond with pushing button or not. We decided language dominance according to the number of acceptable equivalent current dipoles (ECD) modeled by sequential single dipole, and the mean magnetic field strength by root mean square value, in each hemisphere. We collected clinical data including Wada test.
Results: Magnetic fields evoked by word listening were generally distributed in bilateral temporoparietal areas with variable hemispheric dominance. Language tasks using visual stimuli frequently evoked magnetic field in posterior midline area, which made laterality decision difficult. Response during task resulted in more artifacts and different results depending on responding hand. Laterality decision with mean magnetic field strength was more concordant with Wada than the method with ECD number of each hemisphere.
Conclusions: Word listening task without hand response is the most feasible paradigm for language lateralization using MEG. Mean magnetic field strength in each hemisphere is a proper index for hemispheric dominance.

Background
and Objective : Epileptic seizures are frequent complication of lobar hemorrhage. We investigated thefactors affecting development of epilepsy following spontaneous lobar ICH.Methods : From January 1986 to July 1999, 114 patients were admitted to Chungnam National University Hospitalwith spontaneous lobar ICH. We analyzed 75 patients. Excluded were no follow-up(8 patients) and patients died withinfew days(31 patients). All the patient was followed up at least two years aside from two patients who underwent epilepticseizure and died five and eight months later each. Medical history was obtained through medical record and by telephoneinterview. Statistical analyses were performed using Chi-square test, Student

Acute autonomic neuropathy is a rare disease. Since the first case was reported by Young et.al., in 1969, a number ofsimilar cases have been described, with some variation of the accompanied neurologic deficits. Acute autonomic andsensory neuropathy(AASN) is characterized by the acute onset of autonomic dysfunction and sensory disturbances. A16-year-old girl experienced high fever(40

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness,distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is causedby collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1,COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whomthe diagnosis was confirmed by immunohistochemistry and molecular genetic study.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by the expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase (DMPK) gene. Some literatures indicated that DM1 had incidentalCNS lesions such as white matter lesions and diffuse gray matter atrophy. We report a patient with DM1 whose brain magneticresonance image (MRI) showed multifocal hyperintense lesions and cystic lesion on both frontotemporoparietal lobes

Low back pain is a common clinical condition with heterogeneous causes and challenges to manage. High prevalence andnumerous assessments result in an enormous socioeconomic burden. Clinician must conduct efficient and stepwise evaluationprocess to rule out serious spinal pathology, neurologic involvement, and identify risk factors for chronicity. The processcan be achieved through the focused history taking and physical examination. Certain factors related to serious spinalpathology include age (>50 years), trauma, unexplained fever, recent urinary or skin infection, unrelenting night or rest pain,unexplained weight loss, osteoporosis, immunosuppression, steroid use, and widespread neurological symptoms. In non-specificlow back pain, diagnostic imaging and laboratory studies are often unnecessary and can disturb an appropriate management.For the management of acute low back pain, patient education and medication such as acetaminophen, non-steroidalanti-inflammatory drugs, and muscle relaxants are recommended. For chronic low back pain, behavior therapy, back exercise,and spinal manipulation are beneficial. The evidence based approach could improve success rate of management, result inprevention of acute low back pain from being chronic intractable pain.