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Article

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2018

Gitiaux Cyril, Kaminska Anna, Boddaert Nathalie, Barcia Giulia, Guéden Sophie, The Tich Sylvie Nguyen, De Lonlay Pascale, Quijano-Roy Susana, Hully Marie, Péréon Yann, Desguerre Isabelle

Abstract excerpt

BACKGROUND AND AIMS: Phospholipase A2 associated neurodegeneration (PLAN) is a heterogeneous autosomal recessive disorder caused by mutations in the ubiquitously expressed PLA2G6 gene. It is responsible for delayed brain iron accumulation and induces progressive psychomotor regression. We report the concomitant clinical, radiological and neurophysiological findings in PLAN patients in an attempt to determine the...

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PMID: 29859652
DOI: 10.1016/j.ejpn.2018.05.005

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