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Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia
DC Field | Value | Language |
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dc.contributor.author | 서유리 | - |
dc.contributor.author | 한진우 | - |
dc.date.accessioned | 2023-04-20T08:18:50Z | - |
dc.date.available | 2023-04-20T08:18:50Z | - |
dc.date.issued | 2023-02 | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059 | - |
dc.description.abstract | Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Various ophthalmological findings including optic atrophy, ophthalmoplegia, or nystagmus have been reported in patients with spastic paraplegia type 7. We report a 15-year-old male patient with a novel heterozygous variant, c.1224T>G:p.(Asp408Glu) in SPG7 (NM_003119.3) causing early onset isolated optic atrophy and infantile nystagmus prior to the onset of neurological symptoms. Therefore, SPG7 should be considered a cause of infantile nystagmus with optic atrophy. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Wiley-Blackwell | - |
dc.relation.isPartOf | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | ATPases Associated with Diverse Cellular Activities / genetics | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Metalloendopeptidases / genetics | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Optic Atrophy* / diagnosis | - |
dc.subject.MESH | Optic Atrophy* / genetics | - |
dc.subject.MESH | Optic Atrophy* / pathology | - |
dc.subject.MESH | Optic Atrophy, Autosomal Dominant* | - |
dc.subject.MESH | Paraplegia / genetics | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Spastic Paraplegia, Hereditary* / complications | - |
dc.subject.MESH | Spastic Paraplegia, Hereditary* / diagnosis | - |
dc.subject.MESH | Spastic Paraplegia, Hereditary* / genetics | - |
dc.title | Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Ophthalmology (안과학교실) | - |
dc.contributor.googleauthor | Yuri Seo | - |
dc.contributor.googleauthor | Hyun Taek Lim | - |
dc.contributor.googleauthor | Byung Joo Lee | - |
dc.contributor.googleauthor | Jinu Han | - |
dc.identifier.doi | 10.1002/ajmg.a.63037 | - |
dc.contributor.localId | A04758 | - |
dc.contributor.localId | A04329 | - |
dc.relation.journalcode | J00091 | - |
dc.identifier.eissn | 1552-4833 | - |
dc.identifier.pmid | 36367250 | - |
dc.identifier.url | https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63037 | - |
dc.subject.keyword | SPG7 | - |
dc.subject.keyword | autosomal dominant optic atrophy | - |
dc.subject.keyword | infantile nystagmus syndrome | - |
dc.subject.keyword | optic atrophy | - |
dc.contributor.alternativeName | Seo, Yuri | - |
dc.contributor.affiliatedAuthor | 서유리 | - |
dc.contributor.affiliatedAuthor | 한진우 | - |
dc.citation.volume | 191 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 582 | - |
dc.citation.endPage | 585 | - |
dc.identifier.bibliographicCitation | AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02 | - |
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