Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/139483
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Type: | Journal article |
Title: | Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series |
Author: | White, S. Taranath, A. Hanagandi, P. Taranath, D.A. To, M.-S. Souzeau, E. Siggs, O.M. Craig, J.E. |
Citation: | American Journal of Neuroradiology, 2023; 44(10):1231-1235 |
Publisher: | American Society of Neuroradiology |
Issue Date: | 2023 |
ISSN: | 0195-6108 1936-959X |
Statement of Responsibility: | Samuel White, Ajay Taranath, Prasad Hanagandi, Deepa A. Taranath, Minh-Son To, Emmanuelle Souzeau, Owen M. Siggs and Jamie E. Craig |
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. |
Description: | Published September 7, 2023 |
Rights: | © 2023 American Society of Neuroradiology. Indicates open access to non-subscribers at www.ajnr.org |
DOI: | 10.3174/ajnr.A7995 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1116360 http://purl.org/au-research/grants/nhmrc/1154824 |
Published version: | http://dx.doi.org/10.3174/ajnr.a7995 |
Appears in Collections: | Paediatrics publications |
Files in This Item:
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hdl_139483.pdf | Published version | 1.64 MB | Adobe PDF | View/Open |
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