PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings

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

European Journal of Paediatric Neurology（2018）

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摘要

•In PLAN, motor axonal neuropathy occurring before the iron accumulation on MRI.•Rare subtypes of PLAN consist in neonatal motor axonal neuropathy associated with West syndrome.

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关键词

PLA2G6 gene,Infantile neuroaxonal dystrophy,Neuropathy,Hypsarhythmia,Epileptic spasms

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