| 1 | CMTX1, GJB1, GJC2, PMLD1, SPG44 |
| Diseases of connexins expressed in myelinating glia. | |
| Abrams CK. | |
| Neurosci Lett 695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Review. 2019 | |
| 2 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56 |
| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. | |
| Fink JK. | |
| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013 | |
| 3 | GJC1, SPG44 |
| Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. | |
| Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D. | |
| Brain 132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. 2009 | |