Table 2.
Non-PARK loci/genes
Disease/syndrome | Gene | Locus | Inheritance |
---|---|---|---|
SCA2 | SCA 2 | 12q24.12 | AD |
SCA3 | SCA 3 | 14q32.12 | AD |
SCA12 | PPP2R2B | 5q32 | AD |
SCA17 | TBP | 6q27 | AD |
SCA21 | – | 7p21.3-p15.1 | AD |
DYT5/DYT14 | GCH1 | 14q22.2 | AD |
DYT12 | ATP1A3 | 19q13.2 | AD |
FTDP-17T | MAPT | 17q21.31 | AD |
FTDP-17U | PGRN | 17q21.31 | AD |
FTD-3 | CHMP2B | 3p11.2 | AD |
FTD | FUS | 16p11.2 | AD |
9p-linked FTD/ALS | C9ORF72 | 9p21.2 | AD |
Perry syndrome | DCTN1 | 2p13.1 | AD |
Neuroferritinopathy | FTL | 19q13.33 | AD |
Huntington disease | HTT | 4p16.3 | AD |
DYT5 | TH | 11p15.5 | AR |
DYT16 | PRKRA | 2q31.2 | AR |
SPG11 | Spatacsin | 15q21.1 | AR |
Wilson's disease | ATP7B | 13q14.3 | AR |
Niemann-Pick disease | NPC1 | 18q11.2 | AR |
PKAN | PANK2 | 20p13 | AR |
DYT3 | TAF1, TAF1/DYT3 | Xq13.1 | X-linked |
Fragile X tremor ataxia syndrome | FMR1 | Xq27.3 | X-linked |
Complex 1 | ND4 | – | mitochondrial |
SCA = Spinocerebellar ataxia; DYT = dystonia; FTDP-17T = frontotemporal dementia with parkinsonism linked to chromosome 17 with tau pathology; FTDP-17U = frontotemporal dementia with parkinsonism linked to chromosome 17 with ubiquitin pathology; FTD-3 = frontotemporal dementia linked to chromosome 3; FTD = frontotemporal dementia; 9p-linked FTD/ALS = chromosome 9p-linked frontotemporal dementia/amyotrophic lateral sclerosis; SPG = spastic paraplegia; PKAN = pantothenate kinase-associated neurodegeneration; PPP2R2B = protein phosphatase 2, regulatory subunit B, β; TBP = TATA box-binding protein; MAPT = microtubule-associated protein tau; PGRN = progranulin; CHMP2B = chromatin modifying protein 2B; FUS = fused in sarcoma; DCTN1 = dynactin 1; FTL = ferritin light chain; HTT = huntingtin; TH = tyrosine hydroxylase; PRKRA = protein kinase, interferon-inducible double-stranded RNA-dependent activator; ATP7B = ATPase, Cu2+ transporting, β-polypeptide; NPC1 = Niemann-Pick disease type C1; PANK2 = pantothenate kinase 2; TAF1 = TATA box-binding protein-associated factor 1; FMR1 = fragile X mental retardation 1; ND4 = NADH dehydrogenase, subunit 4; AD = autosomal dominant; AR = autosomal recessive.