Table 1.
Genes linked to autosomal forms of Parkinsonism.
| PARK | Gene | Inheritance | Phenotype | Pathology |
|---|---|---|---|---|
| 1 | α-Synuclein | Dominant | Complex mix of Parkinsonism and dementia | Lewy bodies |
| 2 | Parkin | Recessive | Juvenile onset Parkinsonism | Nigral cell death, some with Lewy body pathology |
| 6 | PINK1 | Recessive | Juvenile onset Parkinsonism | One reported case with Lewy bodies |
| 7 | DJ1 | Recessive | Juvenile onset Parkinsonism | No reported pathology |
| 8 | LRRK2 | Dominant | Typical Parkinson's disease | Mixed pathology: Lewy bodies tangles and TDP43 |
| 9 | ATP13A2 | Recessive | Juvenile onset Parkinsonism | No reported pathology |
| 14 | PLA2G6 | Recessive | Juvenile onset Parkinsonism dystonia | Lewy bodies |
| 15 | FBXO7 | Recessive | Juvenile onset Parkinsonism | No reported pathology |
| GBA | Dominant | Typical Parkinson's disease | Lewy bodies | |
| PANK2 | Recessive | Juvenile onset Parkinsonism dystonia | Lewy bodies in NBIA-1 cases | |
| Tau | Dominant | Frontal temporal dementia with Parkinsonism | Tangles |
UCHL1, HTRA2, NR4A2 have all been linked to Parkinson's disease but are of uncertain provenance. The causative genes for PARK 3, 10, 11, 12, 13, 16 remain to be identified.