Table 1.
List of NBIA genes, their expected function and corresponding disorders.
| Gene list | Function | Corresponding disorder | Acronym | MIM-ID |
|---|---|---|---|---|
| PLA2G6 | lipid metabolism | Phospholipase A2-associated neurodegeneration | PLAN | # 610217 |
| PANK2 | coenzyme A biosynthesis | Panthothenate kinase-associated neurodegeneration | PKAN | # 234200 |
| COASY | coenzyme A biosynthesis | COASY protein-associated neurodegeneration | CoPAN | # 615643 |
| ATP13A2 | autophagy | Kufor-Rakeb syndrome | KRS | # 606693 |
| CP | iron homeostasis | Aceruloplasminemia | ACP | # 604290 |
| AP4M1 | autophagy | Spastic paraplegia 50, autosomal recessive | SPG 50 | # 612936 |
| FA2H | lipid metabolism | Fatty acid hydroxylase-associated neurodegeneration | FAHN | # 612319 |
| CRAT | lipid metabolism | Neurodegeneration with brain iron accumulation 8 | NBIA 8 | # 617917 |
| SCP2 | lipid metabolism | Leukoencephalopathy with dystonia and motor neuropathy | LKDMN | # 613724 |
| C19orf12 | lipid metabolism | Mitochondrial membrane protein-associated neurodegeneration | MPAN | # 614298 |
| DCAF17 | unknown | Woodhouse-Sakati syndrome | WSS | # 241080 |
| GTPBP2 | unknown | Jaberi-Elahi syndrome | JES | # 617988 |
| REPS1 | autophagy | Neurodegeneration with brain iron accumulation 7 | NBIA 7 | # 617916 |
| WDR45* | autophagy | ß-propeller-associated neurodegeneration | BPAN | # 300894 |
| FTL** | iron homeostasis | Neuroferritinopathy | n/a | # 606159 |
All disorders are autosomal recessive except *X-linked and **autosomal dominant.