Skip to main content

Table 3 Phenocopy of Huntington's disease (OMIM) [32]

From: Huntington's disease: a clinical review

  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
  1. HDL = Huntington Disease-Like; SCA = Spinocerebellar ataxia; DRPLA = DentatoRubroPallidoLuysian Atrophy; NBIA = Neurodegeneration with Brain Iron Accumulation; PKAN = Pantothenate-Kinase-Associated-Neurodegeneration.