Journal article
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14
Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | WILEY | Published : 2017
DOI: 10.1002/acn3.487
Abstract
Objective: To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. Methods: Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct neuropathological features on post mortem examination. Results: We identified compound heterozygous variants in VAC14 in two deceased siblings with early childhood onset of severe, progressive dystonia, and neurodegeneration. Their clinical phenotype is consistent with the VAC14-related childhood-onset, striatonigral degeneration recently described in two unrelated children. Post mortem examinatio..
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Awarded by NHMRC Postgraduate Scholarship
Awarded by NHMRC
Awarded by NHMRC Senior Research Fellowship
Awarded by NHMRC Career Development Fellowship
Awarded by USPHS
Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
Funding Acknowledgements
CS was supported by NHMRC Postgraduate Scholarship (ID: APP1133266) and the Royal Children's Hospital/Murdoch Childrens Research Institute Flora Suttie Neurogenetics Fellowship made possible by the Thyne-Reid Foundation and the Macquarie Foundation. MB was supported by NHMRC Program Grant (ID: 1054618) and NHMRC Senior Research Fellowship (ID: 1102971). PJL was supported by an NHMRC Career Development Fellowship (GNT1032364). This work was supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme (NHMRC IRIISS). MHM acknowledges support from the USPHS (GM24872). RJL is supported by a Melbourne Children's Clinician Scientist Fellowship.