Journal article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, AJ Abrams, K Sugano, A Yonezawa, AY Manzur, J Burns, I Hughes, BG McCullagh, H Jungbluth, MJ Lim, JP Lin, A Megarbane, JA Urtizberea, AH Shah, J Antony, R Webster Show all
Brain | OXFORD UNIV PRESS | Published : 2014
DOI: 10.1093/brain/awt315
Open access
Abstract
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutati..
View full abstractGrants
Awarded by Thyne Reid Foundation
Funding Acknowledgements
This work was supported by grants from the National Institute for Health Research UCLH/UCL Comprehensive Biomedical Research Centre; the National Institutes of Health [R01NS075764-01A1 (S.Z.), R01NS072248 (S.Z.), U54NS065712 (J.B., M. M. R. and S.Z.)]; the Medical Research Council: MRC fellowship G0802760 (H. H.) and MRC neuromuscular centre grant G0601943; the Wellcome Trust; a grant-in-aid for Scientific Research (KAKENHI) from the Ministry of Education, Science, Culture and Sports of Japan [24590190 (A.Y.), 24590176 (K. M.) and 25136710 (K. M.)]; the Muscular Dystrophy Campaign (A. R. F.), the Thyne Reid Foundation (M. P. M.) and the Great Ormond Street Hospital Children's Charity (F. M., P. C. and S.R.).