Catalog

PLA2G6-associated neurodegeneration

No MMS code

Link to WHO Definition

PLA2G6-associated neurodegeneration – http://id.who.int/icd/entity/263101685

PLA2G6-associated neurodegeneration (PLAN) is caused by mutations in the PLA2G6 gene and comprises a continuum of three phenotypes with overlapping clinical and radiologic features: - Infantile neuroaxonal dystrophy (INAD) - Atypical neuroaxonal dystrophy (atypical NAD) - PLA2G6-related dystonia-parkinsonism.