| H01351 | |
| H number | H01351 |
| Name | Spastic ataxia |
| Description | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | (SPAX1) VAMP1 [HSA:6843] [KO:K08510] (SPAX2) KIF1C [HSA:10749] [KO:K10392] (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874] (SPAX4) MTPAP [HSA:55149] [KO:K18060] (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592] (SPAX8) NKX6-2 [HSA:84504] [KO:K09350] (SPAX9) CHP1 [HSA:11261] [KO:K17610] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | About Spastic ataxia of Charlevoix-Saguenay (SPAX6/ARSACS), please refer to H01170. |
| Other DBs | ICD-11: 8B44.0 ICD-10: G11.4 MeSH: C564815 OMIM: 108600 611302 611390 613672 614487 270550 617560 618438 |
| Reference | PMID:11774073 AUTHORS Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA TITLE A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. JOURNAL Am J Hum Genet 70:763-9 (2002) DOI:10.1086/338933 PMID:22958904 (SPAX1) AUTHORS Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA TITLE VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. JOURNAL Am J Hum Genet 91:548-52 (2012) DOI:10.1016/j.ajhg.2012.07.018 PMID:24319291 (SPAX2) AUTHORS Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S TITLE KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. JOURNAL J Med Genet 51:137-42 (2014) DOI:10.1136/jmedgenet-2013-102012 PMID:16672289 (SPAX3, SPAX6) AUTHORS 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 TITLE A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. JOURNAL Brain 129:2332-40 (2006) DOI:10.1093/brain/awl110 PMID:22448145 (SPAX3) AUTHORS Bayat V, Thiffault I, Jaiswal M, Tetreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ TITLE Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. JOURNAL PLoS Biol 10:e1001288 (2012) DOI:10.1371/journal.pbio.1001288 PMID:20970105 (SPAX4) AUTHORS Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN TITLE Defective mitochondrial mRNA maturation is associated with spastic ataxia. JOURNAL Am J Hum Genet 87:655-60 (2010) DOI:10.1016/j.ajhg.2010.09.013 PMID:22022284 (SPAX5) AUTHORS Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C TITLE Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. JOURNAL PLoS Genet 7:e1002325 (2011) DOI:10.1371/journal.pgen.1002325 PMID:28575651 AUTHORS Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botia JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H TITLE Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. JOURNAL Am J Hum Genet 100:969-977 (2017) DOI:10.1016/j.ajhg.2017.05.009 PMID:29379881 AUTHORS Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B TITLE Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. JOURNAL Neurol Genet 4:e209 (2018) DOI:10.1212/NXG.0000000000000209 |