Cited 6 times in
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김진아 | - |
dc.contributor.author | 김흥동 | - |
dc.contributor.author | 이순민 | - |
dc.contributor.author | 이승구 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이준수 | - |
dc.contributor.author | 이진성 | - |
dc.date.accessioned | 2015-05-19T17:27:28Z | - |
dc.date.available | 2015-05-19T17:27:28Z | - |
dc.date.issued | 2008 | - |
dc.identifier.issn | 0885-7490 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/108184 | - |
dc.description.abstract | Neuroimaging studies of patients with GM2 gangliosidosis are rare. The thalamus and basal ganglia are principally involved in patients affected by the infantile form of GM2 gangliosidosis. Unlike in the infantile form, in juvenile or adult type GM2 gangliosidosis, progressive cortical and cerebellar atrophy is the main abnormality seen on conventional magnetic resonance imaging (MRI); no basal ganglial or thalamic impairment were observed. This report is of a Korean girl with subacute onset, severe deficiency of hexosaminidase A activity and mutations (Arg137Term, Ala246Thr) of the HEXA gene. A 3.5-year-old girl who was previously in good health was evaluated for hypotonia and ataxia 3 months ago and showed progressive developmental deterioration, including cognitive decline. Serial brain MRI showed progressive overall volume decrease of the entire brain and thalamic atrophy. Fluorine-18 FDG PET scan showed severe decreased uptake in bilateral thalamus and diffuse cerebral cortex. We suggest, through our experience, that the thalamic involvement in MR imaging and FDG-PET can be observed in the juvenile form of GM2 gangliosidosis, and we suspect the association of mutations in the HEXA gene. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 235~242 | - |
dc.relation.isPartOf | METABOLIC BRAIN DISEASE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Ataxia/etiology | - |
dc.subject.MESH | Brain/growth & development | - |
dc.subject.MESH | Brain/pathology | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | DNA/genetics | - |
dc.subject.MESH | Exons/genetics | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Fluorodeoxyglucose F18 | - |
dc.subject.MESH | Gangliosidoses, GM2/diagnostic imaging | - |
dc.subject.MESH | Gangliosidoses, GM2/genetics* | - |
dc.subject.MESH | Gangliosidoses, GM2/pathology* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Magnetic Resonance Imaging | - |
dc.subject.MESH | Muscle Hypotonia/etiology | - |
dc.subject.MESH | Mutation/physiology* | - |
dc.subject.MESH | Positron-Emission Tomography | - |
dc.subject.MESH | Radiopharmaceuticals | - |
dc.subject.MESH | Thalamus/diagnostic imaging | - |
dc.subject.MESH | Thalamus/pathology* | - |
dc.subject.MESH | beta-Hexosaminidase alpha Chain/genetics* | - |
dc.title | Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Radiology (영상의학) | - |
dc.contributor.googleauthor | Soon Min Lee | - |
dc.contributor.googleauthor | Min Jung Lee | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.contributor.googleauthor | Jin Sung Lee | - |
dc.contributor.googleauthor | Jinna Kim | - |
dc.contributor.googleauthor | Seung Koo Lee | - |
dc.contributor.googleauthor | Young Mock Lee | - |
dc.identifier.doi | 10.1007/s11011-008-9090-9 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A01022 | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A02905 | - |
dc.contributor.localId | A02912 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A03177 | - |
dc.relation.journalcode | J03198 | - |
dc.identifier.eissn | 1573-7365 | - |
dc.identifier.pmid | 18648917 | - |
dc.identifier.url | http://link.springer.com/article/10.1007%2Fs11011-008-9090-9 | - |
dc.subject.keyword | JuvenileGM2 gangliosidosis | - |
dc.subject.keyword | HEXA gene | - |
dc.subject.keyword | Thalamus | - |
dc.subject.keyword | Neuroimaging | - |
dc.contributor.alternativeName | Kim, Jinna | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Lee, Soon Min | - |
dc.contributor.alternativeName | Lee, Seung Koo | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.alternativeName | Lee, Joon Soo | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Kim, Jinna | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Lee, Soon Min | - |
dc.contributor.affiliatedAuthor | Lee, Seung Koo | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Joon Soo | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 23 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 235 | - |
dc.citation.endPage | 242 | - |
dc.identifier.bibliographicCitation | METABOLIC BRAIN DISEASE, Vol.23(3) : 235-242, 2008 | - |
dc.identifier.rimsid | 35235 | - |
dc.type.rims | ART | - |
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