| H01351 | |
| H番号 | H01351 |
| 名称 | 家族性痙性失調症 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | About Spastic ataxia of Charlevoix-Saguenay (SPAX6/ARSACS), please refer to H01170. |
| リンク | ICD-11: 8B44.0 ICD-10: G11.4 MeSH: C564815 OMIM: 108600 611302 611390 613672 614487 270550 617560 618438 |
| 文献 | PMID:11774073 著者 Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA タイトル A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. 雑誌 Am J Hum Genet 70:763-9 (2002) DOI:10.1086/338933 PMID:22958904 (SPAX1) 著者 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 タイトル VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. 雑誌 Am J Hum Genet 91:548-52 (2012) DOI:10.1016/j.ajhg.2012.07.018 PMID:24319291 (SPAX2) 著者 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 タイトル KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. 雑誌 J Med Genet 51:137-42 (2014) DOI:10.1136/jmedgenet-2013-102012 PMID:16672289 (SPAX3, SPAX6) 著者 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 タイトル A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. 雑誌 Brain 129:2332-40 (2006) DOI:10.1093/brain/awl110 PMID:22448145 (SPAX3) 著者 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 タイトル Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. 雑誌 PLoS Biol 10:e1001288 (2012) DOI:10.1371/journal.pbio.1001288 PMID:20970105 (SPAX4) 著者 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 タイトル Defective mitochondrial mRNA maturation is associated with spastic ataxia. 雑誌 Am J Hum Genet 87:655-60 (2010) DOI:10.1016/j.ajhg.2010.09.013 PMID:22022284 (SPAX5) 著者 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 タイトル Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. 雑誌 PLoS Genet 7:e1002325 (2011) DOI:10.1371/journal.pgen.1002325 PMID:28575651 著者 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 タイトル Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 雑誌 Am J Hum Genet 100:969-977 (2017) DOI:10.1016/j.ajhg.2017.05.009 PMID:29379881 著者 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 タイトル Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. 雑誌 Neurol Genet 4:e209 (2018) DOI:10.1212/NXG.0000000000000209 |