PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

CONCLUSIONS: Peripheral involvement is an early feature in PLAN recognizable by EDX at an earlier stage than typical iron accumulation in the brain. Furthermore, the association of West syndrome and axonal motor neuropathy may represent positive clues in favor of PLAN. This results emphasize the interest of early and repeated EDX.
PMID: 29859652 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - May 22, 2018 Category: Neurology Authors: Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I Tags: Eur J Paediatr Neurol Source Type: research