Table 3.
Phenocopy of Huntington's disease (OMIM) [32]
| Mutation | Locus | |
|---|---|---|
| 1. HDL1 | octapeptiderepeatexpansion PRNP-gen | 20pter.p12 |
| 2. HDL2 | CTG/CAG-expansion JPH3-gen | 16q24.3 |
| 3. HDL3 | Not known | 4p15.3 |
| 4. SCA17 (HDL4) | CAG/CAA-expansion TBP-gen | 6q27 |
| 5. SCA1/2/3 | CAG-expansion ATXN1/2/3-gen | 6p23, 12q24, 14q24-q31 |
| 6. DRPLA | CAG-expansion ATN1-gen | 12p13 |
| 7. Chorea-acanthocytosis | mutation VPS13A-gen | 9q |
| 8. McLeod syndrome | mutation XK-gen | Xp21.2-21.1 |
| 9. NBIA2 | mutation PLA2G6-gen | 22q13.1 |
| 10. NBIA1/PKAN | mutation PANK2-gen | 20p13-12.3 |
| 11. Friedreich ataxia | GAA-expansion FXN-gen | 9q13; 9p23-p11 |
HDL = Huntington Disease-Like; SCA = Spinocerebellar ataxia; DRPLA = DentatoRubroPallidoLuysian Atrophy; NBIA = Neurodegeneration with Brain Iron Accumulation; PKAN = Pantothenate-Kinase-Associated-Neurodegeneration.