Table 1.
Prominent PD/DLB mutations and modifications and their associated prevalence. In general, PD/DLB associated mutations and modifications are rare within the SCNA gene, with most alterations being found in the N-terminus of the α-syn protein. On the contrary, mutations in other genes associated with the mitochondria, the ubiquitin–proteasome pathway, and cytoskeleton are more prominent.
| Gene | Mutations/Modifications | Population | Prevalence in PD/DLB Population | Reference |
|---|---|---|---|---|
| SNCA (PARK1) | Gene duplication | Sweden | 1/2206 (0.045%) |
[53] |
| Gene triplication | Korea | 2/70 (2.86%) |
[54] | |
| South Africa | 1/88 (1.14%) |
[55] | ||
| A30P (N-terminus) | Germany | 5/199 (2.51%) |
[56] | |
| E46K (N-terminus) | Spain | 10/337 (2.97%) |
[57] | |
| H50Q (N-terminus) | British | 1/451 (0.22%) |
[58] | |
| G51D (N-terminus) | France | 4/443 (0.90%) |
[59] | |
| A53T (N-terminus) | Greece | 5/111 (4.5%) |
[60] | |
| Korea | 1/72 (1.39%) |
[61] | ||
| Y125 phosphorylation (C-terminus) | British | 3/4503 (0.067%) |
[62] | |
| Parkin (PARK2) | Copy number variations, small deletions/insertions | Northern Italy | 164/3603 (4.55%) |
[63] |
| Point mutations/small deletions, exon rearrangement | Mixed | 17/100 (17%) |
[64] | |
| Omi/HtrA2 (PARK3) | Point mutation | Germany | 4/892 (0.45%) |
[65] |
| UCHL1 (PARK5) | Point mutation | Germany | 4/507 (0.79%) |
[66] |
| PINK1 (PARK6) | Point mutations (e.g., M129L, P153R) | Malaysia | 6.9% | [67] |
| Tunisia | 2.5% | [68] | ||
| Exon deletion | Iran | Familial: 6/130 (4.6%) | [69] | |
| DJ-1 (PARK7) | Exon deletion | Iran | Familial: 3/130 (2.3%) | [69] |
| Point mutation | Mixed | EOPD: 2/185 (1.1%) | [70] | |
| Exon deletion, splice site changes | Mixed | 2/100 (2%) |
[64] | |
| LRRK2 (PARK8) | Point mutations | Sweden | 0.54% | [53] |
| Italy | Overall: 13/629 (2.1%) Familial: 9/177 (5.1%) Sporadic: 4/452 (0.9%) |
[71] | ||
| Italy, France | Italian (familial): 6/123 (4.8%) French (familial): 2/126 (1.6%) |
[72] | ||
| ATP13A2 (PARK9) | Point mutations | Japan | 28/117 (23.9%) | [73] |
| Exon deletion, gene duplication, gene triplication | Iran | Familial: 10/130 (7.7%) | [69] | |
| GIGYF2 (PARK11) | Point mutation | Italy, France | 4.8% | [72] |