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SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자
DC Field | Value | Language |
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dc.contributor.author | 강훈철 | - |
dc.contributor.author | 고아라 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 이현주 | - |
dc.date.accessioned | 2018-07-20T08:10:03Z | - |
dc.date.available | 2018-07-20T08:10:03Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1226-6884 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/160915 | - |
dc.description.abstract | Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient’s clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한소아신경학회 | - |
dc.relation.isPartOf | Journal of the Korean Child Neurology Society | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자 | - |
dc.title.alternative | A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | 허민우 | - |
dc.contributor.googleauthor | 고아라 | - |
dc.contributor.googleauthor | 이현주 | - |
dc.contributor.googleauthor | 이진성 | - |
dc.contributor.googleauthor | 강훈철 | - |
dc.identifier.doi | 10.26815/jkcns.2017.25.3.200 | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A04507 | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A04645 | - |
dc.relation.journalcode | J01815 | - |
dc.subject.keyword | Spinocerebellar ataxia | - |
dc.subject.keyword | Spectrin beta non-erythrocytic 2 | - |
dc.subject.keyword | SPTBN2 | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.alternativeName | Ko, A Ra | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Lee, Hyun Joo | - |
dc.contributor.affiliatedAuthor | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | Ko, A Ra | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Lee, Hyun Joo | - |
dc.contributor.affiliatedAuthor | 이현주 | - |
dc.citation.volume | 25 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 200 | - |
dc.citation.endPage | 203 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Child Neurology Society, Vol.25(3) : 200-203, 2017 | - |
dc.identifier.rimsid | 60793 | - |
dc.type.rims | ART | - |
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