Journal article
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
S Massey, Y Guo, LG Riley, NJ Van Bergen, SA Sandaradura, E McCusker, M Tchan, C Thauvin-Robinet, Q Thomas, T Moreau, M Davis, D Smits, GMS Mancini, H Hakonarson, S Cooper, J Christodoulou
Neurology Genetics | Published : 2023
Abstract
Background and Objectives The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the ANO10 gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants in ANO10 and determine their pathologic significance in patients diagnosed with SCAR10. Methods We presented 4 patients from 4 famil..
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Funding Acknowledgements
The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The research at the University of Sydney and the University of NSW was established with the support of the NSW Government. The Chair in Genomic Medicine awarded to J. Christodoulou is generously supported by The Royal Children's Hospital Foundation.