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Chromosomal Deletion in 7q31.2-31.32 Involving Ca2+-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report
DC Field | Value | Language |
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dc.contributor.author | 조성래 | - |
dc.contributor.author | 홍승빈 | - |
dc.contributor.author | 이수지 | - |
dc.date.accessioned | 2020-12-01T17:47:04Z | - |
dc.date.available | 2020-12-01T17:47:04Z | - |
dc.date.issued | 2020-03 | - |
dc.identifier.issn | 1976-8753 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/180450 | - |
dc.description.abstract | We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2+-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.publisher | Korean Society for Neurorehabilitation | - |
dc.relation.isPartOf | Brain & Neurorehabilitation | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Chromosomal Deletion in 7q31.2-31.32 Involving Ca2+-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Rehabilitation Medicine (재활의학교실) | - |
dc.contributor.googleauthor | Seungbeen Hong | - |
dc.contributor.googleauthor | Su Ji Lee | - |
dc.contributor.googleauthor | Sung-Rae Cho | - |
dc.identifier.doi | 10.12786/bn.2020.13.e9 | - |
dc.contributor.localId | A03831 | - |
dc.contributor.localId | A05809 | - |
dc.relation.journalcode | J00387 | - |
dc.subject.keyword | Cerebellar Ataxia | - |
dc.subject.keyword | Chromosome Disorders | - |
dc.subject.keyword | Ca2+-Dependent Activator Protein for Secretion, Human | - |
dc.contributor.alternativeName | Cho, Sung Rae | - |
dc.contributor.affiliatedAuthor | 조성래 | - |
dc.contributor.affiliatedAuthor | 홍승빈 | - |
dc.citation.volume | 13 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | e9 | - |
dc.identifier.bibliographicCitation | Brain & Neurorehabilitation, Vol.13(1) : e9, 2020-03 | - |
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