Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/139483
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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | White, S. | - |
dc.contributor.author | Taranath, A. | - |
dc.contributor.author | Hanagandi, P. | - |
dc.contributor.author | Taranath, D.A. | - |
dc.contributor.author | To, M.-S. | - |
dc.contributor.author | Souzeau, E. | - |
dc.contributor.author | Siggs, O.M. | - |
dc.contributor.author | Craig, J.E. | - |
dc.date.issued | 2023 | - |
dc.identifier.citation | American Journal of Neuroradiology, 2023; 44(10):1231-1235 | - |
dc.identifier.issn | 0195-6108 | - |
dc.identifier.issn | 1936-959X | - |
dc.identifier.uri | https://hdl.handle.net/2440/139483 | - |
dc.description | Published September 7, 2023 | - |
dc.description.abstract | Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants. | - |
dc.description.statementofresponsibility | Samuel White, Ajay Taranath, Prasad Hanagandi, Deepa A. Taranath, Minh-Son To, Emmanuelle Souzeau, Owen M. Siggs and Jamie E. Craig | - |
dc.language.iso | en | - |
dc.publisher | American Society of Neuroradiology | - |
dc.rights | © 2023 American Society of Neuroradiology. Indicates open access to non-subscribers at www.ajnr.org | - |
dc.source.uri | http://dx.doi.org/10.3174/ajnr.a7995 | - |
dc.title | Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.3174/ajnr.A7995 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1116360 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1154824 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Paediatrics publications |
Files in This Item:
File | Description | Size | Format | |
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hdl_139483.pdf | Published version | 1.64 MB | Adobe PDF | View/Open |
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