Postural tachycardia syndrome (POTS) is the most common form of orthostatic intolerance in young people. However, it is still considered an underrecognized disorder and so deserves more attention from clinicians. This review covers the diagnostic challenges, correlations between the symptoms, evidence of autoimmune involvement in the pathogenesis, and treatment strategies in POTS.
Transcranial magnetic stimulation (TMS) is a safe and noninvasive tool for investigating the cortical excitability of the human brain and the neurophysiological functions of GABAergic, glutamatergic, and cholinergic neural circuits. Neurophysiological biomarkers based on TMS parameters can provide information on the pathophysiology of dementia, and be used to diagnose Alzheimer’s disease and differentiate different types of dementia. This review introduces the basic principles of TMS, TMS devices and stimulating paradigms, several neurophysiological measurements, and the clinical implications of TMS for Alzheimer’s disease.
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New therapeutics in neurology are expanding at an unprecedented pace. In addition to the classic enzyme-replacement therapies, monoclonal antibodies are increasingly being used to modulate autoimmunity. RNA therapeutics are an emerging class, together with gene and cell therapies. The nomenclature of international nonproprietary names helps us to recognize these new drugs according to their class and function. Suffixes denote major categories of the drug, while infixes provide additional information such as the source and target.
Korean Society of Intraoperative Neurophysiological Monitoring , Korean Neurological Association , Korean Academy of Rehabilitation Medicine , Korean Society of Clinical Neurophysiology , Korean Association of EMG Electrodiagnostic Medicine
Ann Clin Neurophysiol 2021;23(1):35-45. Published online April 29, 2021
The utility and accuracy of intraoperative neurophysiological monitoring (IONM) has evolved greatly following the recent development of new devices for neurophysiological testing and advances in anesthesiology. Until recently, the need for IONM services has been limited to large academic hospitals, but the demand for neurophysiologists with expertise in IONM has grown rapidly across diverse types of hospital. The primary goal of the Korean Society of Intraoperative Neurophysiological Monitoring (KSION) is to promote the development of IONM research groups and to contribute to the improvement of fellowship among members and human health through academic projects. These guidelines are based on extensive literature reviews, recruitment of expert opinions, and consensus among KSION board members. This version of the guidelines was fully approved by the KSION, Korean Association of EMG Electrodiagnostic Medicine, the Korean Society of Clinical Neurophysiology, the Korean Academy of Rehabilitation Medicine, and the Korean Neurological Association.
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Background We aimed to investigate candidates for serological biomarkers of neuropathic pain in individuals with neuromyelitis optica spectrum disorder (NMOSD).
Methods We analyzed 38 sera samples from 38 participants with NMOSD in National Cancer Center. Neuropathic pain was evaluated using the painDETECT questionnaire. Pain with neuropathic components (painDETECT score ≥ 13) was observed in 22 participants, among whom 17 had definite neuropathic pain (painDETECT score ≥ 19). The remaining 16 participants had non-neuropathic pain (painDETECT score < 13). Serum glial fibrillary acidic protein (GFAP) levels were assessed using a single-molecule array assay. Several cytokines, including tumor necrosis factor-alpha (TNF-α), interleukin (IL)-6, IL-10, and IL-17A, were measured by a multiplex bead-based immunoassay.
Results In comparison of NMOSD participants with neuropathic pain components (or definite neuropathic pain) and those with non-neuropathic pain, the absolute values of serum GFAP, TNF-α, IL-6, and IL-10 levels were higher in participants with neuropathic pain components (or definite neuropathic pain), but these findings did not reach statistical significance.
Conclusions Further larger-scale investigations to find reliable serological biomarkers for neuropathic pain in NMOSD are warranted.
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Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.
Tectal glioma is an indolent and benign tumor that occurs predominantly in the pediatric population. It arises in the tectum of the midbrain and, due to its location, contributes to the development of obstructive hydrocephalus, typically presenting with increased intracranial pressure (IICP) symptoms or signs. Here we report a rare case of tectal glioma that presented as adult-onset epileptic seizures without IICP symptoms and was treated with endoscopic third ventriculostomy and antiepileptic drugs.
Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD. Here we report a 47-year-old male with adrenomyeloneuropathy with cerebral involvement who exhibited progressive gait disturbance and cognitive impairment. A novel frameshift variant (c.95del [p.Val32Alafs*36]) in exon 1 of ABCD1 was identified. This report provides additional information regarding the various clinical characteristics of ALD.