Table 1.
List of genes for monogenic forms of isolated and combined dystonias.
| Locus | Disease | Type | Inh. | Gene name | Chrom. |
|---|---|---|---|---|---|
| DYT1 | Oppenheim’s torsion dystonia | ID | AD | TorsinA | 9q34 |
| DYT2 | Early-onset recessive TD | ID | AR | HPCL | 1p35 |
| DYT3 | Lubag (x-linked dystonia-parkinsonism) | CD | X-R | TAF1 | Xq13.1 |
| DYT4 | Whispering dystonia (one family only) | ID | AD | TUBB4 | – |
| DYT5a/b | Dopa-responsive dystonia | CD | AD | GCH1, TH, SPR | 14q22.1 |
| DYT6 | Craniocervical dystonia (Mennonite/Amish) | ID | AD | THAP1 | 8q21-q22 |
| DYT7 | Familial torticollis | ID | AD | – | 18p |
| DYT8 | Paroxysmal non-kinesigenic choreoathetosis | ID/CD | AD | MR1 | 2q33-q35 |
| DYT9 | Paroxysmal dyskinesias with spasticity | CD | AD | GLUT1 (SLC2A1) | 1p21 |
| DYT10 | Paroxysmal kinesigenic dyskinesia | ID/CD | AD | PRRT2 | 16p11.2 |
| DYT11 | Myoclonus-dystonia | CD | AD | e-SG | 7q21.3 |
| DYT12 | Rapid-onset dystonia-Parkinsonism | CD | AD | ATP1A3 | 19q13 |
| DYT13 | Craniocervico brachial | ID | AD | – | 1p36 |
| DYT15 | Myoclonus-dystonia | CD | AD | – | 18p11 |
| DYT16 | Dystonia-Parkinsonism | CD | AR | PRKRA | 2q31.2 |
| DYT17 | Juvenile-onset TD with torticollis and dysarthria | CD | AR | – | 20p11 |
| DYT18 | Paroxysmal exercise-induced dystonia | ID/CD | AD | GLUT1 (SLC2A1) | 1p31 |
| DYT19 | Paroxysmal kinesigenic dystonia 2 | ID/CD | AD | – | 16q13 |
| DYT20 | Paroxysmal non-kinesigenic dystonia 2 | ID/CD | AD | – | 2q31 |
| DYT21 | Pure dystonia, mixed distribution | ID | AD | – | 2q14 |
| DYT23 | Cervical dystonia/myoclonus-dystonia | ID | AD | CACNA1B | 9q34 |
| DYT24 | Mixed dystonia | ID | AD | ANO3 | 11p14 |
| DYT25 | Cervical dystonia | ID | AD | GNAL | 18p11 |
| DYT26 | Myoclonic dystonia | CD | AD | KCTD17 | 22q12 |
| DYT27 | Cervical/limb/generalized | ID | AR | COL6A3 | 2q37 |
| Cervical dystonia | ID | AD | CIZ1 | 9q34 |
Inh., inheritance mode; Chrom., chromosomal region.
The assignment of a DYT number does not mean that the pathogenic role of mutations in the listed genes is unequivocally confirmed.