Genetic loci for HSP
| Gene symbol | MIM number | Chromosomal location | Gene product | Phenotype | Key references |
|---|---|---|---|---|---|
| CHSP=complicated HSP, PHSP=pure HSP, XLH=X linked hydrocephalus, PMD=Pelizaeus-Merzbacher disease. | |||||
| X linked | |||||
| SPG1 | 312900 | Xq28 | L1-CAM | CHSP, XLH | 8 |
| SPG2 | 312920 | Xq22 | PLP, DM20 | PHSP, CHSP, PMD | 9 |
| SPG16 | 300266 | Xq11.2 | – | PHSP, CHSP | 10 |
| Dominant | |||||
| SPG3A | 182600 | 14q12-q21 | Atlastin | PHSP | 11, 12 |
| SPG4 | 182601 | 2p21-p24 | Spastin | PHSP, ?CHSP | 13, 14 |
| SPG6 | 600363 | 15q11.2-q12 | – | PHSP | 15 |
| SPG8 | 603563 | 8q24 | – | PHSP | 16, 17 |
| SPG9 | 601162 | 10q23.3-q24.2 | – | CHSP | 18 |
| SPG10 | 604187 | 12q13 | KIF5A | PHSP | 19, 20 |
| SPG12 | 604805 | 19q13 | – | PHSP | 21 |
| SPG13 | 605280 | 2q24-q34 | HSP60 | PHSP | 22, 23 |
| SPG17 | 270685 | 11q12-q14 | – | CHSP (Silver syndrome) | 24 |
| SPG18 | Pending | Reserved | – | – | – |
| SPG19 | 607152 | 9q33-q34 | – | PHSP | 25 |
| Recessive | |||||
| SPG5 | 270800 | 8q11-q13 | – | PHSP | 26 |
| SPG7 | 602783 | 16q24.3 | Paraplegin | PHSP, CHSP | 27, 28 |
| SPG11 | 604360 | 15q13-q15 | – | PHSP, CHSP | 29 |
| SPG14 | 605229 | 3q27-q28 | – | CHSP | 30 |
| SPG15 | 606859 | 14q22-q24 | – | CHSP (Kjellin syndrome) | 31 |
| SPG20 | 275900 | 13q12.3 | Spartin | CHSP (Troyer syndrome) | 32 |