Table 1.
Nuclear-encoded mitochondrial disease gene diagnoses identified in solved dystonia cases
| Functional Category | Gene | Mode of inheritance | Dystonia category | n. of cases |
|---|---|---|---|---|
| OXPHOS subunits, assembly factors, and electron carriers | ATP5F1A | AD | Complex (ID, ataxia, spasticity) | 1 |
| ATP5MC3 | AD | Combined (spasticity) | 1 | |
| COQ8A | AR | isolated/combined (ataxia) | 3 | |
| SCO2 | AR | Complex (ID) | 1 | |
| Mitochondrial DNA replication and expression | NARS2 | AR | Complex (epilepsy) | 1 |
| WARS2 | AR | Complex (ID, parkinsonism) | 3 | |
| Mitochondrial dynamics, homeostasis, and quality control | AFG3L2 | AD | Complex (ID, ataxia) | 1 |
| DNM1L | AD | Complex (ID, epilepsy) | 1 | |
| OPA1 | AD | Complex (optic atrophy) | 1 | |
| PINK1 | AR | Combined (parkinsonism) | 1 | |
| PRKN | AR | Combined (parkinsonism) | 1 | |
| SERAC1 | AR | Complex (ID) | 1 | |
| SPG7 | AR | Combined (ataxia) | 1 | |
| VPS13D | AR | Complex (ID, ataxia) | 1 | |
| Metabolism of substrates | FA2H | AR | Complex (ID, spasticity) | 1 |
| Metabolism of cofactors | MECR | AR | Complex (optic atrophy) | 1 |
| PANK2 | AR | Complex (ataxia, spasticity, cognitive decline) | 6 | |
| PLA2G6 | AR | Combined/complex (ataxia, ID) | 2 | |
| WFS1 | AD | Complex (optic atrophy, deafness, migraine) | 1 |
Genes associated with NBIAs are shown in bold. While some genes may be associated with both autosomal recessive (AR) and autosomal dominant inheritance (AD), we herein reported only the mode of inheritance specific to the variants detected in the present study. ID: intellectual disability