Article
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Journal of the neurological sciences - 15 Oct 2017
Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone Aldo, Annesi Grazia
Abstract excerpt
Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile...
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