Table 2. Mutations and Ethnicity of Patients with PLA2G6 Associated Dystonia–Parkinsonism.
| Report | Patients | Ethnicity/Consanguinity | Mutation | Result |
|---|---|---|---|---|
| Paisán-Ruiz et al.8 | Family 1 | Indian/+1 | c.2222G>A | p.R741Q |
| Paisán-Ruiz et al.8 | Family 2 | Pakistani/+ | c.2239C>T | p.R747W |
| Sina et al.9 | One family | Iranian/+ | c.1894C>T | p.R632W |
| Bower et al.10 | One family | European/– | c.4C>A/Del Ex 3 | p.Q2K/pL71_S142del |
| Yushino et al.11 | Patient A | Japanese/– | c.216C>A/c.1904G>A | p.F72L/p.R635Q |
| Yushino et al.11 | Patients B1,B2 | Japanese/– | c.1354C>T/c.1904G>A | p.Q452X/p.R635Q |
| Shi et al.12 | One patient | Chinese/+ | c.991G>T | p.D331Y |
| Virmani et al.13 | One family | Indian/+ | c.2222G>A | p.R741Q |
| Agarwal et al.14 | One family | Scandinavian/– | c.238G>A | p.A80T |
| Lu et al.15 | Two families | Han Chinese/– | c.991G>T/c.1077G>A | p.D331Y/p.M358IfsX |
| Lu et al.15 | One family | Han Chinese/+ | c.991G>T | p.D331Y |
| Kim et al.16 | One family | Korean/– | c.1039G>A/c.1670C>T | p.G347R/p.S557L |
| Malaguti et al.17 | One family | Italian/– | c.1547C>T | p.A516W |
| Xie et al.18 | Two families | Chinese/+ | c.991G>T | p.D331Y |
| This work | One Family | Pakistani/+ | c.2222G>A | p.R741Q |
+, Consanguineous Parents; –, Non-consanguineous Parents.
1
Thirteen patients were the result of consanguineous marriages.