GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Kristoffer HaugarvollStefan JohanssonCarlos E RodriguezHelge BomanBjørn Ivar HaukanesOve BrulandFrancisco RoqueInge JonassenMaria BlomqvistWenche TelstadJan-Eric MånssonPer Morten KnappskogLaurence Albert BindoffPublished in: PloS one (2017)
We report GBA2 mutations causing a Marinesco-Sjögren-like syndrome in two Norwegian families. One of the families was originally diagnosed with Marinesco-Sjögren syndrome based on an autosomal recessive cerebellar ataxia with cataracts and mental retardation. Our findings highlight the phenotypic variability associated with GBA2 mutations, and suggest that patients with Marinesco-Sjögren-like syndromes should be tested for mutations in this gene.