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Last updated: 04 January 2025 Print

PLA2G6-Associated Neurodegeneration

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Infantile Neuroaxonal Dystrophy (INAD)Neurodegeneration with brain iron accumulation (NBIA)PLA2G6-Associated Neurodegeneration

Overview

PLA2G6-associated neurodegeneration (PLAN), also referred to as NAD or PARK14, is caused by mutations in the gene encoding calcium-independent phospholipase A2 (PLA2G6) (Figs 19.6a and 19.6b). The disease can manifest as classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (NAD), and PLA2G6-related dystonia-parkinsonism (Kurian and Hayflick, 2013).

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