Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia


OBJECTIVE: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. METHODS: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. RESULTS: We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. CONCLUSIONS: VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia.

Type Journal
ISBN 1526-632X (Electronic) 0028-3878 (Linking)
Authors Stoll, M. ; Teoh, H. ; Lee, J. ; Reddel, S. ; Zhu, Y. ; Buckley, M. ; Sampaio, H. ; Roscioli, T. ; Farrar, M. ; Nicholson, G.;
Publisher Name NEUROLOGY
Published Date 2016-01-01
Published Volume 87
Published Issue 1
Published Pages 65-70
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version