Table 19.1.
The neurodegeneration with brain iron accumulation disorders
| Gene | Protein | Disorder |
|---|---|---|
| PANK2 | Pantothenate kinase 2 | Pantothenate kinase-associated neurodegeneration (PKAN) |
| PLA2G6 | Calcium-independent phospholipase A2 group VIa = iPLA2VIa | Phospholipase A2-associated neurodegeneration (PLAN), including infantile neuroaxonal dystrophy (INAD) |
| C19orf12 | C19orf12 | Mitochondrial membrane protein-associated neurodegeneration (MPAN) |
| WDR45 | WD40-repeat protein 45 | Beta-propeller protein-associated neurodegeneration (BPAN) |
| CoASY | Coenzyme A synthase | CoA synthase protein-associated neurodegeneration (CoPAN) |
| FA2H | Fatty acid 2 hydroxylase | Fatty acid-2 hydroxylase-associated neurodegeneration (FAHN) |
| ATP13A2 | Cation-transporting ATPase 13A2 | Kufor–Rakeb disease |
| CPL | Ceruloplasmin | Aceruloplasminemia |
| FTL | Ferritin light chain | Neuroferritinopathy |