Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Spastic paraplegia 3, autosomal dominant (Strumpell disease) - (AD) | 15.1 | | Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct;5(2):163-7. (15517445) | | Abel, A.; Fonknechten, N.; Hofer, A.; Durr, A.; Cruaud, C.; Voit, T.; Weissenbach, J.; Brice, A.; Klimpe, S.; Auburger, G.; Hazan, J. : Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5: 239-243, 2004. (8252041) |
| |
| Spastic paraplegia 4, autosomal dominant - (AD) | 15.2 | | Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994 Sep;3(9):1569-73. (7833913) |
| |
| Spastic paraplegia 6, autosomal dominant - (AD) | 15.3 | | Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995 Jan;56(1):188-92. (14508710) | | Rainier, S.; Chai, J.-H.; Tokarz, D.; Nicholls, R. D.; Fink, J. K. : NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 73: 967-971, 2003. (7825577) |
| | non-imprinted in Prader-Willi/Angelman syndrome 1
|
|
|
| Spastic paraplegia 8, autosomal dominant - (AD) | 15.4 | | Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. (17160902) | | Valdmanis, P. N.; Meijer, I. A.; Reynolds, A.; Lei, A.; MacLeod, P.; Schlesinger, D.; Zatz, M.; Reid, E.; Dion, P. A.; Drapeau, P.; Rouleau, G. A. : Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am. J. Hum. Genet. 80: 152-161, 2007. (9973294) |
| |
| Spastic paraplegia 9, autosomal dominant - (AD) | 15.5 | | Seri, M.; Cusano, R.; Forabosco, P.; Cinti, R.; Caroli, F.; Picco, P.; Bini, R.; Morra, V. B.; De Michele, G.; Lerone, M.; Silengo, M.; Pela, I.; Borrone, C.; Romeo, G.; Devoto, M. : Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am. J. Hum. Genet. 64: 586-593, 1999. (9973297) |
| |
| Spastic paraplegia 10, autosomal dominant - (AD) | 15.6 | | Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant pure hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet. 1999 Sep;65(3):757-63. (10441583) |
| |
| Spastic paraplegia 12, autosomal dominant - (AD) | 15.7 | | Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet. 2000 Feb;66(2):728-32. (10677333) | | Orlacchio, A.; Kawarai, T.; Rogaeva, E.; Song, Y. Q.; Paterson, A. D.; Bernardi, G.; St. George-Hyslop, P. H. : Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 59: 1395-1401, 2002. (12427890) |
| |
| Spastic paraplegia 13, autosomal dominant - (AD) | 15.8 | | Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000 Feb;66(2):702-7. (10677329) | | Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K and Mandel H. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 2008;83:30-42. (18571143) |
| | heat shock 60kDa protein 1 (chaperonin)
|
|
|
| Spastic paraplegia 17, autosomal dominant (Silver) - (AD) | 15.9 | | Windpassinger, C.; Auer-Grumbach, M.; Irobi, J.; Patel, H.; Petek, E.; Horl, G.; Malli, R.; Reed, J. A.; Dierick, I.; Verpoorten, N.; Warner, T. T.; Proukakis, C.; Van den Bergh, P.; Verellen, C.; Van Maldergem, L.; Merlini, L.; De Jonghe, P.; Timmerman, V.; Crosby, A. H.; Wagner, K. : Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genet. 36: 271-276, 2004. (14981520) |
| |
| Spastic paraplegia 19, autosomal dominant - (AD) | 15.10 | | Valente, E. M.; Brancati, F.; Caputo, V.; Bertini, E.; Patrono, C.; Costanti, D.; Dallapiccola, B. : Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann. Neurol. 51: 681-685, 2002. (12112072) |
| |
| Spastic paraplegia 29, autosomal dominant - (AD) | 15.11 | | Orlacchio, A.; Kawarai, T.; Gaudiello, F.; St George-Hyslop, P. H.; Floris, R.; Bernardi, G.: New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann. Neurol. 58: 423-429, 2005. (16130112) |
| |
| Spastic paraplegia 31, autosomal dominant - (AD) | 15.12 | | Zuchner, S.; Kail, M. E.; Nance, M. A.; Gaskell, P. C.; Svenson, I. K.; Marchuk, D. A.; Pericak-Vance, M. A.; Ashley-Koch, A. E. : A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. (Letter) Neurogenetics 7: 127-129, 2006(a). (16565863) | | Zuchner, S.; Wang, G.; Tran-Viet, K.-N.; Nance, M. A.; Gaskell, P. C.; Vance, J. M.; Ashley-Koch, A. E.; Pericak-Vance, M. A. : Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79: 365-369, 2006.(b) (16826527) |
| | receptor accessory protein 1
|
|
|
| Spastic paraplegia 33, autosomal dominant - (AD) | 15.13 | | Mannan, A. U.; Krawen, P.; Sauter, S. M.; Boehm, J.; Chronowska, A.; Paulus, W.; Neesen, J.; Engel, W. : ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79: 351-357, 2006. (16826525) |
| |
| Spastic paraplegia 36, autosomal dominant - (AD) | 15.14 | | Schule, R., Bonin, M., Durr, A., Forlani, S., Sperfeld, A. D., Klimpe, S., Mueller, J. C., Seibel, A., van de Warrenburg, B. P., Bauer, P., Schols, L. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 72: 1893-1898, 2009. (19357379) |
| |
| Spastic paraplegia 37, autosomal dominant - (AD) | 15.15 | | Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A and Stevanin G. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007. (17605047) |
| |
| Spastic paraplegia 38, autosomal dominant - (AD) | 15.16 | | Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R, Bernardi G, Kawarai T. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008 May 20;70(21):1959-66. Epub 2008 Apr 9. (18401025 ) |
| |
| Spastic paraplegia 41, autosomal dominant - (AD) | 15.17 | | Zhao, G., Hu, Z., Shen, L., Jiang, H., Ren, Z., Liu, X., Xia, K., Guo, P., Pan, Q., Tang, B. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin. Med. J. 121: 430-434, 2008. (18364116) |
| |
| Spastic paraplegia 42, autosomal dominant - (AD) | 15.18 | | Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9. (19061983) |
| | acetyl-Coenzyme A transporter
acetyl-Coenzyme A transporter
solute carrier family 33 (acetyl- CoA transporter)
|
|
|
| Spastic paraplegia 5, autosomal recessive - (AR) | 15.19 | | Hentati, A.; Pericak-Vance, M. A.; Hung, W.-Y.; Belal, S.; Laing, N.; Boustany, R.-M.; Hentati, F.; Ben Hamida, M.; Siddique, T. : Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Molec. Genet. 3: 1263-1267, 1994. (14658060) | | Muglia, M.; Criscuolo, C.; Magariello, A.; De Michele, G.; Scarano, V.; D'Adamo, P.; Ambrosio, G.; Gabriele, A. L.; Patitucci, A.; Mazzei, R.; Conforti, F. L.; Sprovieri, T.; Morgante, L.; Epifanio, A.; La Spina, P.; Valentino, P.; Gasparini, P.; Filla, A.; Quattrone, A. : Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics 5: 49-54, 2004. (18252231) | | Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. Epub 2008 Jan 18. (19187859) | | Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T., Crosby, A. H. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am. J. Hum. Genet. 82: 510-515, 2008. (19224311) | | Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M and Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009;256:104-8. (19439420) | | Biancheri, R., Ciccolella, M., Rossi, A., Tessa, A., Cassandrini, D., Minetti, C., Santorelli, F. M. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromusc. Disord. 19: 62-65, 2009. (7987300) |
| | cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
|
| Spastic paraplegia 7, autosomal recessive - (AR) | 15.20 | | Casari, G.; De Fusco, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; De Michele, G.; Filla, A.; Cocozza, S.; Marconi, R.; Durr, A.; Fontaine, B.; Ballabio, A. : Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998. (9635427) |
| |
| Spastic paraplegia 11, autosomal recessive - (AR) | 15.21 | | Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999 Jul 13;53(1):50-6. (10408536) | | Stevanin, G.; Montagna, G.; Azzedine, H.; Valente, E. M.; Durr, A.; Scarano, V.; Bouslam, N.; Cassandrini, D.; Denora, P. S.; Criscuolo, C.; Belarbi, S.; Orlacchio, A.; and 27 others : Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 7: 149-156, 2006. (16699786) | | Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A and Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-72. (17322883) |
| |
| Spastic paraplegia 14, autosomal recessive - (AR) | 15.22 | | Vazza, G.; Zortea, M.; Boaretto, F.; Micaglio, G. F.; Sartori, V.; Mostacciuolo, M. L. : A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am. J. Hum. Genet. 67: 504-509, 2000. (10877981) |
| |
| Spastic paraplegia 15, autosomal recessive (Kjellin syndrome) - (AR) | 15.23 | | Hughes, C. A.; Byrne, P. C.; Webb, S.; McMonagle, P.; Patterson, V.; Hutchinson, M.; Parfrey, N. A. : SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56: 1230-1233, 2001. (11342696) | | Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28. (18394578) | | Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. (17661097) |
| |
| Spastic paraplegia 18 - (AR) | 15.24 | | Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., Chand, P., Koul, R., Jacob, P. C., Gururaj, A., Sztriha, L., Parrado, A., Van Broeckhoven, C., Bayoumi, R. A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66: 1230-1234, 2006. (16636240) |
| |
| Spastic paraplegia 20 (Troyer) - (AR) | 15.25 | | Patel, H.; Cross, H.; Proukakis, C.; Hershberger, R.; Bork, P.; Ciccarelli, F. D.; Patton, M. A.; McKusick, V. A.; Crosby, A. H. : SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet. 31: 347-348, 2002. (12134148) |
| |
| Spastic paraplegia 21 (Mast) - (AR) | 15.26 | | Simpson, M. A.; Cross, H.; Proukakis, C.; Pryde, A.; Hershberger, R.; Chatonnet, A.; Patton, M. A.; Crosby, A. H. : Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73: 1147-1156, 2003. (14564668) |
| |
| Spastic paraplegia 23 (Lison) - (AR) | 15.27 | | Blumen, S. C.; Bevan, S.; Abu-Mouch, S.; Negus, D.; Kahana, M.; Inzelberg, R.; Mazarib, A.; Mahamid, A.; Carasso, R. L.; Slor, H.; Withers, D.; Nisipeanu, P.; Navon, R.; Reid, E. : A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann. Neurol. 54: 796-803, 2003. (14681889) |
| |
| Spastic paraplegia 24 - (AR) | 15.28 | | Hodgkinson, C. A.; Bohlega, S.; Abu-Amero, S. N.; Cupler, E.; Kambouris, M.; Meyer, B. F.; Bharucha, V. A. : A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59: 1905-1909, 2002. (12499481) |
| |
| Spastic paraplegia 25 - (AR) | 15.29 | | Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, A.; Mostacciuolo, M. L. : Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J. Med. Genet. 39: 387-390, 2002. (12070243) |
| |
| Spastic paraplegia 26 - (AR) | 15.30 | | Wilkinson, P. A.; Simpson, M. A.; Bastaki, L.; Patel, H.; Reed, J. A.; Kalidas, K.; Samilchuk, E.; Khan, R.; Warner, T. T.; Crosby, A. H. : A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. (Letter) J. Med. Genet. 42: 80-82, 2005. (15635080) |
| |
| Spastic paraplegia 27 - (AR) | 15.31 | | Meijer, I. A.; Cossette, P.; Roussel, J.; Benard, M.; Toupin, S.; Rouleau, G. A. : A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann. Neurol. 56: 579-582, 2004. (15455396) |
| |
| Spastic paraplegia 28 - (AR) | 15.32 | | Bouslam, N.; Benomar, A.; Azzedine, H.; Bouhouche, A.; Namekawa, M.; Klebe, S.; Charon, C.; Durr, A.; Ruberg, M.; Brice, A.; Yahyaoui, M.; Stevanin, G. : Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann. Neurol. 57: 567-571, 2005. (15786464) |
| |
| Spastic paraplegia 30 - (AR) | 15.33 | | Klebe, S.; Azzedine, H.; Durr, A.; Bastien, P.; Bouslam, N.; Elleuch, N.; Forlani, S.; Charon, C.; Koenig, M.; Melki, J.; Brice, A.; Stevanin, G. : Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129: 1456-1462, 2006. (16434418) | | Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011 May;21(5):658-64. Epub 2011 Apr 12. (21487076) |
| |
| Spastic paraplegia 32, autosomal recessive - (AR) | 15.34 | | Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Durr A, Prud'homme JF, Weissenbach J, Brice A and Hazan J. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 2007;68:1837-40. (17515546) |
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| Spastic paraplegia 35, autosomal recessive - (AR) | 15.35 | | Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008 Jul 22;71(4):248-52. Epub 2008 May 7. (18463364) |
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| Spastic paraplegia 39, autosomal recessive - (AR) | 15.36 | | Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. Epub 2008 Feb 28. (18313024) |
| | patatin-like phospholipase domain containing 6
|
|
|
| Spastic paraplegia 43, autosomal recessive - (AR) | 15.37 | | Meilleur KG, Traor* M, Sangar* M, Britton A, Landour* G, Coulibaly S, Niar* B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul;11(3):313-8. Epub 2009 Dec 29. (20039086) |
| |
| Spastic paraplegia 45, autosomal recessive - (AR) | 15.38 | | Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics. 2009 Oct;10(4):325-31. Epub 2009 May 5. (19415352) |
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| Spastic paraplegia 47, autosomal recessive - (AR) | 15.39 | | Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. Epub 2011 Mar 25. (21440262) |
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| Spastic paraplegia 48, autosomal recessive - (AR) | 15.40 | | Stabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 2010 Jun 29;8(6):e1000408. (20613862) |
| | hypothetical protein LOC9907 ?
|
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| Spastic paraplegia, complicated recessive (Sjogren-Larsson syndrome) - (AR) | 15.41 | | Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH, Wadelius C. The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet. 1994 Dec;8(4):361-4. Erratum in: Nat Genet 1995 Apr;9(4):451. (7894487) | | De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Related Articles, Links Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7. (8528251) |
| | aldehyde dehydrogenase 3A2
|
|
|
| Infantile-onset ascending spastic paraplegia - (AR) | 15.42 | | Eymard-Pierre, E.; Lesca, G.; Dollet, S.; Santorelli, F. M.; di Capua, M.; Bertini, E.; Boespflug-Tanguy, O. : Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. 71: 518-527, 2002. (12145748) |
| |
| Spastic paraplegias, X-linked type 1 (MASA syndrome X-linked hydrocephalus) - (XR) | 15.43 | | Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet. 1986 Jul;73(3):264-6. (3460961) | | Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7. (7920659) |
| | L1 cell adhesion molecule
|
|
|
| Spastic paraplegias, X-linked type 2 - (XR) | 15.44 | | Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987 Nov;41(5):933-43. (3479019) | | Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet. 1994 Jul;7(3):351-2. (7522741) | | Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet. 1994 Mar;6(3):257-62. (8012387) |
| |
| Spastic paraplegia, X-linked type 16 - (XR) | 15.45 | | Steinmuller, R.; Lantigua-Cruz, A.; Garcia-Garcia, R.; Kostrzewa, M.; Steinberger, D.; Muller, U. : Evidence of a third locus in X-linked recessive spastic paraplegia. Hum. Genet. 100: 287-289, 1997. (9254866) |
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| Autosomal recessive spastic ataxia of Charlevoix-Saguenay - (AR) | 15.46 | | Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melancon SB. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998 Oct;8(7):474-9. (10610707) | | Engert, J. C.; Dore, C.; Mercier, J.; Ge, B.; Betard, C.; Rioux, J. D.; Owen, C.; Berube, P.; Devon, K.; Birren, B.; Melancon, S. B.; Morgan, K.; Hudson, T. J.; Richter, A. : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics 62: 156-164, 1999. (9829277) | | Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melancon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. (10655055) |
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| Autosomal dominant spastic ataxia 1 - (AD) | 15.47 | | Meijer, I. A.; Hand, C. K.; Grewal, K. K.; Stefanelli, M. G.; Ives, E. J.; Rouleau, G. A. : A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am. J. Hum. Genet. 70: 763-769, 2002. (11774073) |
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| Autosomal recessive spastic ataxia 2 - (AR) | 15.48 | | Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A, Yahyaoui M and Stevanin G. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007;121:413-20. (17273843) |
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| Autosomal recessive spastic ataxia 3 (with leukoencephalopathy) - (AR) | 15.49 | | Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3. (16672289) |
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