Expansion of the clinicopathological and mutational spectrum of Perry syndrome
DC Field | Value | Language |
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dc.contributor.author | Chung, Eun Joo | - |
dc.contributor.author | Hwang, Ji Hye | - |
dc.contributor.author | Lee, Myung Jun | - |
dc.contributor.author | Hong, Jeong-Hoon | - |
dc.contributor.author | Ji, Ki Hwan | - |
dc.contributor.author | Yoo, Woo-Kyoung | - |
dc.contributor.author | Kim, Sang Jin | - |
dc.contributor.author | Song, Hyun Kyu | - |
dc.contributor.author | Lee, Chong S. | - |
dc.contributor.author | Lee, Myung-Sik | - |
dc.contributor.author | Kim, Yun Joong | - |
dc.date.accessioned | 2021-09-05T10:15:04Z | - |
dc.date.available | 2021-09-05T10:15:04Z | - |
dc.date.created | 2021-06-15 | - |
dc.date.issued | 2014-04 | - |
dc.identifier.issn | 1353-8020 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/98925 | - |
dc.description.abstract | Background: Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. Previous pathological studies have reported relative sparing of the cerebral cortex in this syndrome. Here, we characterize novel clinical and neuroimaging features in 3 patients with PS. Methods: F-18-fluorinated N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane ([F-18]FP-CIT) PET, [F-18]fluorodeoxyglucose PET, or volumetric MRI was performed in probands, and imaging data were analyzed and compared with those of control subjects. Results: We identified 2 novel mutations of DCTN1. Oculogyric crisis that presented before levodopa treatment was observed in 1 case. One patient had supranuclear gaze palsy. In 2 cases, [F-18]FP-CIT showed marked loss of dopamine transporter binding with only mild parkinsonism. Areas of hypometabolism or cortical thickness change were observed in dorsolateral frontal, anterior cingulate, lateral temporal, and inferior parietal cortices. Conclusion: Oculomotor manifestations are not uncommon in PS. Neuroimaging studies suggest involvement of the frontotemporoparietal cortex, which may be the clinical correlate of apathy and depression, as well as pathological changes in subcortical structures. (C) 2014 Elsevier Ltd. All rights reserved. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER SCI LTD | - |
dc.subject | CENTRAL HYPOVENTILATION | - |
dc.subject | FAMILIAL PARKINSONISM | - |
dc.subject | WEIGHT-LOSS | - |
dc.subject | DEPRESSION | - |
dc.subject | DISEASE | - |
dc.subject | DEGENERATION | - |
dc.subject | APATHY | - |
dc.subject | ATHYMHORMIA | - |
dc.subject | DEMENTIA | - |
dc.subject | BINDING | - |
dc.title | Expansion of the clinicopathological and mutational spectrum of Perry syndrome | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Song, Hyun Kyu | - |
dc.identifier.doi | 10.1016/j.parkreldis.2014.01.010 | - |
dc.identifier.scopusid | 2-s2.0-84897965001 | - |
dc.identifier.wosid | 000336354800006 | - |
dc.identifier.bibliographicCitation | PARKINSONISM & RELATED DISORDERS, v.20, no.4, pp.388 - 393 | - |
dc.relation.isPartOf | PARKINSONISM & RELATED DISORDERS | - |
dc.citation.title | PARKINSONISM & RELATED DISORDERS | - |
dc.citation.volume | 20 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 388 | - |
dc.citation.endPage | 393 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.subject.keywordPlus | CENTRAL HYPOVENTILATION | - |
dc.subject.keywordPlus | FAMILIAL PARKINSONISM | - |
dc.subject.keywordPlus | WEIGHT-LOSS | - |
dc.subject.keywordPlus | DEPRESSION | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | DEGENERATION | - |
dc.subject.keywordPlus | APATHY | - |
dc.subject.keywordPlus | ATHYMHORMIA | - |
dc.subject.keywordPlus | DEMENTIA | - |
dc.subject.keywordPlus | BINDING | - |
dc.subject.keywordAuthor | Perry syndrome | - |
dc.subject.keywordAuthor | DCTN1 | - |
dc.subject.keywordAuthor | Novel mutation | - |
dc.subject.keywordAuthor | MR volumetry | - |
dc.subject.keywordAuthor | Positron-emission tomography | - |
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