서범천 교수
Beomchun Seo
성균관대학교 의학과 · 의학
연구실 소개
서범천 교수의 연구실은 신경계 자가면역질환과 유전성 신경병증의 병태생리학적 기전을 밝히는 데 초점을 맞추고 있습니다. 특히 급성염증성해면비종양성신경병증(GBS)의 항체유형과 임상 양상 간의 연관성, 미토콘드리아 운반 단백질(MFN2) 유전자 돌연변이가 유발하는 축삭성 신경병증(CMT)의 뇌 영상 소견 등 신경질환의 분자생물학적 기반을 규명하고 있습니다. 또한 갑상선 기능 이상이 뇌졸중 예후에 미치는 영향과 같은 신경내분비학적 연관성에 대해서도 연구를 진행하고 있습니다.
연구 현황
연구 성과 추이
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주요 논문
15Anti-ganglioside antibodies were frequently found in the serum of Korean GBS patients, and each antibody was correlated strongly with the various clinical manifestations. Nevertheless, without an anti-ganglioside antibody assay, in Korea AMAN is frequently misdiagnosed as AIDP by single electrophysiological studies.
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.
Subclinical hypothyroidism (SCH) is thought to have an influence on stroke outcomes. However, few reports demonstrate a favorable relationship between the two. We evaluated this association in acute ischemic stroke. From Jan 2005 to June 2008, 756 acute ischemic stroke patients were recruited within seven days of onset. The patients with overt hypothyroidism/hyperthyroidism or other medical conditions that may affect thyroid function were excluded. Thyroid stimulating hormone (TSH) and free thyr
The results of this study suggest that the potential risk of aggravating autoimmune disease is higher for ILI than for influenza vaccination, which further suggests that influenza vaccination can be offered to patients with MG.
Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective brain MRI study was performed on 18 early-onset CMT patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found. Early-onset patients showed multiple scattered or confluent brain lesions that involved gray matter as well as white matter. Patterns of brain involvement in early-onset patients differed from those
Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent sensory impairment, resulting in foot ulcers or amputations and has a juvenile to adult onset. The major underlying causes of HSAN I are mutations in SPTLC1, which encodes the first subunit of serine palmitoyltransferase (SPT). To date, there have been no reports with regard to an HSAN patient of Korean origin. In this report we discussed an HSAN I patient with a missense mutat
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene. TYMP encodes thymidine phosphorylase (TP), which has an essential role in the nucleotide salvage pathway for mitochondrial DNA (mtDNA) replication. This study reports an MNGIE patient with novel compound heterozygous missense mutations (Thr151Pro and Leu270Pro) in TYMP. Each mutation was inherited from one paren
BACKGROUND/AIMS: Brachial-ankle pulse wave velocity (baPWV) is a marker of vascular stiffness and is reported to be associated with diabetic neuropathy; however, the relationship between baPWV and nerve conduction study (NCS) has yet to be examined. METHODS: Between January 2006 and December 2008, we investigated this relationship in diabetic patients. To this end, we reviewed the medical records of 100 diabetic patients for whom both baPWV and NCS had been examined. RESULTS: The mean age of pat
To explore the clinical significance of anti-cytosolic 5'-nucleoditase 1A (NT5c1A) antibody seropositivity in inflammatory myopathies, we measured anti-NT5c1A antibodies and analyzed their clinical features. Anti-NT5c1A antibodies were measured in the sera of 103 patients with inflammatory myopathies using an enzyme-linked immunosorbent assay. Positivity for anti-NT5c1A antibody was found in 13 (12.6%) of 103 patients with inflammatory myopathy. Anti-NT5c1A antibody was most frequently identifie
Background: Neuropathic pain is defined as pain arising as a direct consequence of a lesion or disease affecting the somatosensory system either at the peripheral or central level. In most cases, neuropathic pain is associated with poor general health and has a problem of suboptimal response to medical treatment. This review will discuss the neurologic and non-neurologic conditions that cause neuropathic pain and the results of epidemiologic studies on neuropathic pain.Current Concepts: Epidemio
Bethlem myopathy (BM) is an early-onset benign autosomal dominant myopathy characterized by proximal muscle weakness and multiple contractures. It is caused by mutations in the three genes encoding collagen VI, which is a ubiquitous extracellular matrix protein forming a microfibrillar network in close association with the basement membrane. Here, we present a family with BM which is t he first reported Korean case. J Korean Neurol Assoc 24(6):614-617, 2006
The authors declare no conflicts of interest.
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