Table 2. Proportion and Type of Mutations.
| Gene | Patients With Mutation, % (95% CI) | Source | Gene Assessment | Type of Mutation Found |
|---|---|---|---|---|
| PRKN | 6 (2-10) | Capecci et al,27 2004 | PRKN | ex3del |
| Romito et al,28 2005 | PRKN | G828A-duplEx1 | ||
| Moro et al,23 2008 | PRKN; PINK1; LRRK2 (only G2019S) | Q34fsX43 (2 patients); N58_Q178del; V2445fsX318; Q57fsX96-Q347fsX368; I2fsX7-Q311fsX318 | ||
| Lohmann et al,25 2008 | PRKN; LRRK2 (only G2019S) | C289G; ex5del–255delA; ex3del–prom-ex1del; ex2-4dupl–ex3del; ex5del–C441R; ex2del–ex3del; ex4-7del–IVS7-1G>C | ||
| Angeli et al,24 2013 | PRKN; PINK1; LRRK2 (exons 1, 2, 10, 15, 27, 41, 49); DJ-1 (exons 3, 5, 6, 7); SNCA; GBA | c.101_102delAG; ex3-4del; c.1289G>A-c.823C>T; c.337_376del-c.465–466del; c.823C>T-ex6dupl | ||
| Kim et al,26 2014 | PRKN; PINK1; LRRK2 (only G2019S); DJ-1; SNCA | NR (3 patients) | ||
| LRRK2 | 29 (10-47) | Schüpbach et al,31 2007 | LRRK2 (exon 41) | G2019S (8 patients); T2031S |
| Gómez-Esteban et al,33 2008 | LRRK2 | R1441G (5 patients) | ||
| Breit et al,34 2010 | LRRK2 | R793M | ||
| Stefani et al,35 2013 | LRRK2 (exon 41) | G2019S | ||
| Angeli et al,24 2013 | PRKN; PINK1; LRRK2 (exons 1, 2, 10, 15, 27, 41, 49); DJ-1 (exons 3, 5, 6, 7); SNCA; GBA; PRKN; PINK1; LRRK2 (only G2019S); PRKN | G2019S (5 patients) | ||
| Greenbaum et al,32 2013 | PINK1; LRRK2 (exon 41); DJ-1; GBA (N370S and L444P) | G2019S (13 patients) | ||
| Sayad et al,29 2016 | PRKN | G2019S (15 patients) | ||
| GBA | 5 (2-8) | Weiss et al,36 2012 | PINK1; LRRK2 (exons 1, 2, 10, 15, 27, 41, 49); DJ-1 (exons 3, 5, 6, 7); SNCA; GBA; PRKN | L444P (2 patients); N370S |
| Angeli et al,24 2013 | PINK1; LRRK2; DJ1; SNCA; GBA; PRKN | 13 Patients heterozygous: E326K (4 patients); N370S; D409H; recNcil; R463C; N188S; R275Q; IVS211 G>A; L444P; T369M 3 patients homozygous/compound heterozygous: E326K; R463C; L444P-E326K |
||
| Lythe et al,37 2017 | PINK1; LRRK2 (only G2019S); SNCA | 15 Patients heterozygous: NR; 2 patients homozygous: NR |
||
| PINK1 | NA | Moro et al,23 2008 | PRKN | V170G |
| SNCA | NA | Antonini et al,38 2012 | PINK1 | dupl 4q22.1 |
| PRKN + PINK1 | NA | Nakahara et al,39 2014 | NA | T175PfsX2 (PRKN) + R58-V59insGR (heterozygous PINK1) |
Abbreviations: NA, not applicable; NR, not reported.