Table 1. Monogenic forms of hereditary dystonia.
Modified from Brüeggemann and Klein (2010). Features of mapped DYT dystonias
| Type | Clinical presentation | Inheritance | Gene location | Gene | Protein | Protein function |
|---|---|---|---|---|---|---|
| DYT1 | Childhood-onset generalized TD | AD | 9q | TORIA | torsinA | Protein interactions in NE and ER (AAA+ ATPase) |
| DYT3 | X-linked dystonia parkinsonism; “lubag” | XR | Xq | TAF1/DYT3 | TAF | transcription factor |
| DYT5a/DYT14a | Dopa-responsive dystonia; Segawa syndrome | AD | 14q | GCH1 | GTP cyclo-hydrolase | Biopterin biosynthetic enzyme |
| DYT5b | Dopa-responsive dystonia; Segawa syndrome | AR | 11p | TH | tyrosine hydroxylase | dopa-biosynthetic enzyme |
| DYT6 | Adolescent-onset TD of mixed type | AD | 8p | THAP1 | THAP1 | zinc finger transcription factor |
| DYT7 | Adult-onset focal TD | AD | 18p | — | — | |
| DYT8 | Paroxysmal nonkinesigenic dyskinesia | AD | 2q | PNKD1/MR1 | myofibrillogenesis regulator-1 | unknown |
| DYT9 | Paroxysmal choreoathetosis with episodic ataxia and spasticity | AD | 1p | — | — | — |
| DYT10 | Paroxysmal kinesigenic choreoathetosis | AD | 16p-q | — | — | — |
| DYT11 | Myoclonus-dystonia | AD | 7q | SGCE | epsilon-sarcoglycan | Dystrophin-glycoprotein complexes |
| DYT12 | Rapid-onset dystonia-parkinsonism | AD | 19q | ATP1A3 | Na+/K+ ATPase α subunit | ion transporter |
| DYT13 | Multifocal/segmental dystonia | AD | 1p | — | — | — |
| DYT15 | Myoclonus-dystonia | AD | 18p | — | — | — |
| DYT16 | Young-onset dystonia-(parkinsonism) | AR | 2p | PRKRA | PACT | stress response protein |
| DYT17 | AR primary TD | AR | 20pq | — | — | — |
| DYT18 | Paroxysmal exertion-induced dyskinesia 2 | AD | 1p | SLC2A1 | GLUT1 | glucose transporter |
| DYT19 | Episodic kinesigenic dyskinesia 2 | AD | 16q | — | — | — |
| DYT20 | Paroxysmal nonkinesigenic dyskinesia 2 | AD | 2q | — | — | — |
AD autosomal dominant, AR autosomal recessive, OMIN online mendelian inheritance in man, TD torsion dystonia, XR X-linked recessive
a
DYT14 recently was redefined as DYT5 (Wider et al., 2008)