Table 1.
Genes that cause lysosomal storage diseases (LSDs) and the percent of mutated variants compared to the number of tested variants. Data were obtained by whole exome sequencing of PD patients. The analysis in this study targeted several variants from each LSD gene, looking for an association with PD. Variants that were significantly associated with PD are given as the percentage of total variants examined for each gene. The study was performed under strict conditions, only using patients with a common European ancestry and quality-controlled samples. Moreover, subjects were excluded with mutations in well-established Mendelian genes known to cause PD. Adapted from [10].
| LSD | Gene | Mutated Variants (%) |
|---|---|---|
| Action mycolonus-renal failure syndrome | SCARB2 | 70.0 |
| Alpha-mannosidosis | MAN2B1 | 91.7 |
| Aspartylglucosaminuria | AGA | 33.3 |
| Beta-mannosidosis | MANBA | 83.3 |
| Cystinosis | CTNS | 92.3 |
| Danon disease | LAMP2 | 77.8 |
| Fabry disease | GLA | 77.8 |
| Farber Lipogranulomatosis | ASAH1 | 85.0 |
| Fucosidosis | FUCA1 | 80.0 |
| Galactosialidosis | CTSA | 78.6 |
| Gaucher disease | GBA | 82.1 |
| GM1-gangliosidosis/Morquio B | GLB1 | 50.0 |
| GM2-gangliosidosis | GM2A | 100.0 |
| Hunter syndrome | IDS | 88.9 |
| Hurler syndrome | IDUA | 50.0 |
| I-Cell disease | GNPTAB | 79.5 |
| Krabbe disease | GALC | 83.3 |
| Kufor-Rakeb syndrome | ATP13A2 | 75.0 |
| Maroteaux–Lamy disease | ARSB | 90.9 |
| Metachromatic leukodystrophy | ARSA | 100.0 |
| Morquio A disease | GALNS | 63.6 |
| Mucolipidosis type IV | MCOLN1 | 73.7 |
| Mucopolysaccharidosis type IX | HYAL1 | 69.2 |
| Neuronal ceroid lipofuscinosis | CLN3 | 92.3 |
| CLN6 | 70.0 | |
| CLN8 | 44.4 | |
| CTSD | 57.1 | |
| CTSF | 81.8 | |
| DNAJC5 | 100.0 | |
| GRN | 63.2 | |
| KCTD7 | 75.0 | |
| MFSD8 | 77.8 | |
| PPTI | 77.8 | |
| TPPI | 86.7 | |
| Niemann–Pick disease type A/B | SMPD1 | 84.0 |
| Niemann–Pick disease type C1 | NPC1 | 81.4 |
| Niemann–Pick disease type C2 | NPC2 | 100.0 |
| Pompe disease | GAA | 66.7 |
| Pycnodysostosis | CTSK 6 | 83.3 |
| Salla disease | SLC17A5 | 94.4 |
| Sandhoff disease | HEXB | 75.0 |
| Sanfilippo A syndrome | SGSH | 80.0 |
| Sanfilippo B syndrome | NAGLU | 90.0 |
| Sanfilippo C syndrome | HGSNAT | 83.3 |
| Sanfilippo D syndrome | GNS | 55.0 |
| Schindler disease/Kanzaki disease | NAGA | 88.9 |
| Sly disease | GUSB | 58.8 |
| Sphingolipid-activator deficiency | PSAP | 72.7 |
| Tay–Sachs disease | HEXA | 90.0 |
| Wolman disease | LIPA 14 | 71.4 |