Table 6.4.
Genes causing parkinsonism
| Locus/gene | Map position | Characteristics |
|---|---|---|
| Dominantly inherited | ||
| PARK1 (α‐synuclein) | 4q21–22 | Rare point mutations, duplication/triplication of normal gene |
| Atypical features, young onset | ||
| PARK8 (LRRK2/dardarin) | 12p11.2‐q13.1 | Sporadic and familial, heterogeneous signs and pathology |
| Old and young onset | ||
| Recessively inherited | ||
| PARK2 (parkin) | 6q25–27 | Many mutations, atypical, most onset < 30 years of age |
| PARK6 (PINK1) | 1p35–36 | Two mutations in three consanguineous families |
| PARK7 (DJ‐1) | 1p36 | Point mutation, deletion, few families, atypical |
| Uncertain inheritance | ||
| PARK5 (UCHL1) | 4p14 | |
Normal protein products of PARK1, 2, 5, 6 and 7 are all likely involved in protein degradation and/or cellular response to toxicant injury or oxidative stress.