Guillain-Barre Syndrome After Two COVID-19 Vaccinations: Two Case Reports With Follow-up Electrodiagnostic Study

Guillain-Barre syndrome (GBS) is an immune-mediated acute polyradiculoneuropathy and commonly occurs after a preceding infection or immunization sequalae. Following the severe acute respiratory syndrome-coronavirus-2 virus pandemic with co-introduction of massive vaccinations, several GBS cases associated with coronavirus disease 2019 (COVID-19) infection per se or after vaccination for COVID-19 were reported internationally. Herein, we report two cases of Korean GBS presenting with tetraplegia after two different COVID-19 vaccinations (42-year old man by AstraZeneca and 48-year woman by Pfizer vaccines) within four weeks after vaccination. The patients were diagnosed with clinical examination, serial electromyography, and compatible laboratory results and improved after comprehensive rehabilitative treatment and intravenous immunoglobulin therapy. Furthermore, we performed an electrodiagnostic follow-up study of each case to examine their unique characteristics.

Amphiphilic Myopathy Induced by Hydroxychloroquine Presenting with Dysarthria / 대한신경근육질환학회지

Chloroquine and hydroxychloroquine (HCQ) are commonly used antimalarial agents as the treatment for a wide range of autoimmune disorders including dermatological, rheumatoid, and connective tissue diseases. These amphiphilic drugs can cause toxic myopathy in in patients which are commonly characterized as reversible proximal muscle weakness, dysphagia and dyspnea. Herein, we report a case of a patient on HCQ, who suffered from toxic myopathy presenting as proximal muscle weakness and dysarthria, which was fully recovered after the cessation.

A Case of POEMS Syndrome Previously Diagnosed with Extramedullary Plasmacytoma / 대한신경근육질환학회지

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome is a rare multisystem disorder associated with osteosclerotic myeloma. It is characterized by peripheral polyneuropathy, presence of monoclonal plasma cell proliferative disorder, and one or more of the following features – sclerotic bone lesions, Castleman disease, elevated levels of vascular endothelial growth factor, organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, and thrombocytosis. Extramedullary plasmacytoma (EMP) is a rare plasma cell neoplasm that arises in isolated tissues without bone marrow involvement or systemic characteristics of multiple myeloma. Herein, we report a male patient who was previously diagnosed with EMP and later developed POEMS.

Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis / 대한신경근육질환학회지

Background@#Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts. @*Methods@#We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR. @*Results@#Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients. @*Conclusions@#Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.

Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis / 대한신경근육질환학회지

Background@#Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts. @*Methods@#We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR. @*Results@#Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients. @*Conclusions@#Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.

A Therapeutic Strategy for Alzheimer's Disease Focused on Immune-inflammatory Modulation

Alzheimer's disease (AD), the most common form of dementia, has emerged as a major global public health challenge. However, the complexity of AD in its biological, genetic, and clinical aspects has hindered the development of effective therapeutic agents. Research plans that integrate new drug discoveries are urgently needed, including those based on novel and reliable biomarkers that reflect not only clinical phenotype, but also genetic and neuroimaging information. Therapeutic strategies such as stratification (i.e., subgrouping of patients having similar clinical characteristics or genetic background) and personalized medicine could be set as new directions for developing effective drugs for AD. In this review, we describe a therapeutic strategy that is based on immune-inflammation modulation for a subgroup of AD and related dementias, arguing that the use of stratification and personalized medicine is a promising way to achieve targeted medicine. The Korean AD Research Platform Initiative based on Immune-Inflammatory biomarkers (K-ARPI) has recently launched a strategy to develop novel biomarkers to identify a subpopulation of patients with AD and to develop new drug candidates for delaying the progression of AD by modulating toxic immune inflammatory response. Sphingosine kinase 1 (SphK1) and its metabolites, triggering receptor expressed on myeloid cells-2 (TREM2) related signals, and actin motility related proteins including Nck-associated protein 1 (Nap1) were selected as promising targets to modulate neuroinflammation. Their roles in stratification and personalized medicine will be discussed.