Table 1.
Locus | Gene | Inheritance | Onset | Location | Variants | Function |
---|---|---|---|---|---|---|
PARK1/4 | SNCA | Dominant Risk factor |
EO | 4q21.3-q22 | 5 point mutations, multiplications Rep1 risk variant in the promoter | Synaptic vesicles trafficking |
PARK2 | PARKIN | Recessive | EO | 6q25.2-q27 | >250 point mutation, ins/de and exon rearrangements | Mitophagy |
PARK3 | Unknown | Dominant | LO | 2p13 | ? | ? |
PARK5 | UCHL1 | Dominant | LO | 4p13 | 1 missense variant in one sibling pair | Proteasome |
PARK6 | PINK1 | Recessive | EO | 1p36.12 | >100 point mutations, ins/del and exon rearrangements | Mitophagy |
PARK7 | DJ-1 | Recessive | EO | 1p36.23 | >20 point mutations and deletions | Mitophagy |
PARK8 | LRRK2 | Dominant | LO | 12q12 | 7 point mutations | Autophagy? |
Risk factor | Risk variants p.R1628P and p.G2385R | |||||
PARK9 | ATP13A2 | Recessive | EO | 1p36 | >20 point mutations | Lysosomes |
PARK10 | Unknown | Risk factor | ? | 1p32 | ? | ? |
PARK11 | GIGYF2 | Recessive | EO | 2q36-7 | 7 missense variants | Insulin-like growth factors (IGFs) signaling |
PARK12 | Unknown | Risk factor | ? | Xq21-q22 | ? | ? |
PARK13 | HTRA2 | Dominant | ? | 2p13.1 | 1 missense variant | Mitophagy, |
PARK14 | PLA2G6 | Recessive | EO | 22q13.1 | >18 missense variants | Lipids metabolism |
PARK15 | FBXO7 | Recessive | EO | 22q12.3 | 4 point mutations | Mitophagy |
PARK16 | Unknown | Risk factor | ? | 1q32 | ? | ? |
PARK17 | VPS35 | Dominant | LO | 16q12 | 2 point mutations | Endosomes |
PARK18 | EIF4G1 | Dominant | LO | 3q27.1 | 1 missense variant | Protein translation |
PARK19 | DNAJC6 | Recessive | EO | 1p31.3 | 9 missense variants | Endosomes |
PARK20 | SYNJ1 | Recessive | EC | 21q22.11 | 3 missense variants | Endosomes |
PARK21 | DNAJC13 | Dominant | LO | 3q22.1 | 1 missense variant | Endosomes |
PARK22 | CHCHD2 | Dominant | LO/EO | 7p11.2 | 1 missense variant, 1 truncation | Mitochondria-mediated apoptosis and metabolism? |
PARK23 | VPS13C | Recessive | EO | 15q22.2 | 2 missense variants,l truncation | Mitophagy |
– | GBA | AD, AR in GD Risk factor | LO | lq22 | >10 missense variants | Lysosomes |
– | MAPT | Sporadic Risk factor |
17q21.31 | H1 haplotype increase PD risk and disease severity | Microtubules | |
EO, early onset; LO, late onset.