Table 2.2.
Hereditary dystonias with Mendelian inheritance patterns
| HUGO/OMIM | Common name | Locus/gene | Mode | Mutant protein |
|---|---|---|---|---|
| DYT1 (MIM 128100) | Oppenheim’s dystonia | 9q34.11/TOR1A | AD | TorsinA (Ozelius et al., 1997) |
| DYT2 (MIM 224500) | Autosomal recessive dystonia | Unknown | AR | Unknown |
| DYT3 (MIM 314250) | Lubag (X-linked dystonia–parkinsonism) | Xq13.1/TAF1 | XLR | Reduced TAF1 expression (Makino et al., 2007; Nolte et al., 2003) |
| DYT4 (MIM 128101) | Australian whispering dysphonia family | Unknown | AD | Unknown |
| DYT5a (MIM 128230) | Dopa-responsive dystonia | 14q22.2/GCH1 | AD | GTP cyclohydrolase I (Ichinose et al., 1994) |
| DYT5b | Dopa-responsive dystonia | 11p.15.5/TH | AR | Tyrosine hydroxylase (Lüdecke et al., 1995) |
| DYT5b | Dopa-responsive dystonia | 2q13.2/SPR | AR | Sepiapterin reductase (Bonafé et al., 2001) |
| DYT6 (MIM 602629) | Mixed-type dystonia | 8p11.21 | AD | THAP1 (Fuchs et al., 2009) |
| DYT7 (MIM 602124) | Familial torticollis | 18p | AD | Unknown |
| DYT8 (MIM 118800) | Paroxysmal nonkinesigenic dyskinesia (PNKD) | 2q35/PNKD | AD | Paroxysmal nonkinesigenic protein (Rainier et al., 2004) |
| DYT9 (MIM 601042) | Paroxysmal choreoathetosis/spasticity | 1p34.2/SLC2A1 | AD | Glucose transporter 1 (GLUT1) (Weber et al., 2011) |
| DYT10 (MIM 128200) | Paroxysmal kinesigenic dyskinesia (PKD) | 16p11.2/PRRT2 | AD | Proline-rich transmembrane protein 2 (Chen et al., 2011) |
| DYT11 (MIM 159900) | Myoclonus-dystonia syndrome | 7q21.3/SGCE | AD | ε-sarcoglycan (Zimprich et al., 2001) |
| DYT12 (MIM 128235) | Rapid-onset dystonia–parkinsonism | 19q13.2/ATP1A3 | AD | Na+/K+–ATPase α-3 subunit (de Carvalho Aguiar et al., 2004) |
| DYT13 (MIM 607671) | Italian family-primary torsion dystonia | 1p36.32-p36.13 | AD | Unknown |
| DYT15 (MIM 607488) | Myoclonus dystonia, Canadian family | 18p11 | AD | Unknown |
| DYT16 (MIM 612067) | Young-onset dystonia–parkinsonism | 2q31.2/PRKRA | AR | Stress-response protein PRKRA (Camargos et al., 2008) |
| DYT17 (MIM 612406) | Generalized dystonia with dysarthria and dysphonia | 20p11.2-q13.12 | AR | Unknown |
| DYT18 (MIM 61216) | Paroxysmal exertional dyskinesia associated with hemolytic anemia | 1p34.2/SLC2A1 | AR | Glucose transporter 1 (GLUT1) (Weber et al., 2008) |
| DYT19 (MIM 611031) | Paroxysmal kinesigenic dyskinesia (PKD) | 16q13-q22.1 | AD | Unknown |
| DYT20 (MIM 611147) | Paroxysmal nonkinesigenic dyskinesia 2 (PNKD2) | 2q31 | AD | Unknown |
| DYT21 | Adult-onset mixed dystonia | 2q14.3-q21.3 | AD | Unknown |
AD, autosomal dominant; AR, autosomal recessive.