| H00063 | |
| H number | H00063 |
| Name | Spinocerebellar ataxia (SCA) |
| Description | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression. |
| Category | Neurodegenerative disease DIS_PATHWAY hsa05017 Spinocerebellar ataxia |
| Network | nt06462 Spinocerebellar ataxia nt06528 Calcium signaling |
| Gene | (SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disease class: polyglutamine disease Affected region: cerebellum, dentate nucleus, brain stem (SCA1); cerebellum, brain stem, frontotemporal lobes (frontal lobe and temporal lobe) (SCA2); cerebellum, basal ganglia, brain stem, spinal cord (SCA3); cerebellum (SCA5); cerebellum, dentate nucleus, inferior olive (SCA6); cerebellum, inferior olive, dentate nucleus, pontine nuclei (also the retina) (SCA7); cerebral cortex, cerebellum (SCA12); cerebellum, inferior olive (SCA17) Microscopic lesion: neuronal inclusions (SCA1, SCA2, SCA3, SCA7, SCA17); cytoplasmic inclusions (SCA6) |
| Other DBs | ICD-11: 8A03.16 ICD-10: G31.9 MeSH: D020754 OMIM: 164400 183090 109150 600224 183086 164500 608768 603516 604432 604326 605259 605361 606658 607136 607346 607454 610245 609306 193003 610246 117360 117210 133190 613908 614153 615945 615957 616053 616410 616795 617018 617691 617769 617770 617931 618093 619806 620158 |
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JOURNAL Nat Genet 39:1434-6 (2007) DOI:10.1038/ng.2007.43 PMID:10581021 (SCA12) AUTHORS Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL TITLE Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. JOURNAL Nat Genet 23:391-2 (1999) DOI:10.1038/70493 PMID:16501573 (SCA13) AUTHORS Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM TITLE Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. JOURNAL Nat Genet 38:447-51 (2006) DOI:10.1038/ng1758 PMID:12644968 (SCA14) AUTHORS Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH TITLE Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. JOURNAL Am J Hum Genet 72:839-49 (2003) DOI:10.1086/373883 PMID:17590087 (SCA15) AUTHORS van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB TITLE Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. JOURNAL PLoS Genet 3:e108 (2007) DOI:10.1371/journal.pgen.0030108 PMID:10484774 (SCA17) AUTHORS Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S TITLE A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? JOURNAL Hum Mol Genet 8:2047-53 (1999) DOI:10.1093/hmg/8.11.2047 PMID:23280838 (SCA19/22) AUTHORS Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Kusters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS TITLE Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. JOURNAL Ann Neurol 72:870-80 (2012) DOI:10.1002/ana.23700 PMID:25070513 (SCA21) AUTHORS Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buee L, Destee A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonniere B TITLE TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. JOURNAL Brain 137:2657-63 (2014) DOI:10.1093/brain/awu202 PMID:21035104 (SCA23) AUTHORS Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS TITLE Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. JOURNAL Am J Hum Genet 87:593-603 (2010) DOI:10.1016/j.ajhg.2010.10.001 PMID:23001565 (SCA26) AUTHORS Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM TITLE A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. JOURNAL Hum Mol Genet 21:5472-83 (2012) DOI:10.1093/hmg/dds392 PMID:12489043 (SCA27) AUTHORS van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P TITLE A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. JOURNAL Am J Hum Genet 72:191-9 (2003) DOI:10.1086/345488 PMID:20208537 (SCA28) AUTHORS Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F TITLE Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. JOURNAL Nat Genet 42:313-21 (2010) DOI:10.1038/ng.544 PMID:22986007 (SCA29) AUTHORS Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM TITLE Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. JOURNAL Orphanet J Rare Dis 7:67 (2012) DOI:10.1186/1750-1172-7-67 PMID:19878914 (SCA31) AUTHORS Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H TITLE Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. JOURNAL Am J Hum Genet 85:544-57 (2009) DOI:10.1016/j.ajhg.2009.09.019 PMID:24566826 (SCA34) AUTHORS Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P TITLE Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JOURNAL JAMA Neurol 71:470-5 (2014) DOI:10.1001/jamaneurol.2013.6337 PMID:25253745 (SCA35) AUTHORS Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW TITLE Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. JOURNAL Neurology 83:1554-61 (2014) DOI:10.1212/WNL.0000000000000909 PMID:21683323 (SCA36) AUTHORS Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A TITLE Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. JOURNAL Am J Hum Genet 89:121-30 (2011) DOI:10.1016/j.ajhg.2011.05.015 PMID:28686858 (SCA37) AUTHORS Seixas AI, Loureiro JR, Costa C, Ordonez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandao E, Cruz VT, Timoteo A, Quintans B, Rouleau GA, Rizzu P, Carracedo A, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I TITLE A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. JOURNAL Am J Hum Genet 101:87-103 (2017) DOI:10.1016/j.ajhg.2017.06.007 PMID:25065913 (SCA38) AUTHORS Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A TITLE ELOVL5 mutations cause spinocerebellar ataxia 38. JOURNAL Am J Hum Genet 95:209-17 (2014) DOI:10.1016/j.ajhg.2014.07.001 PMID:25062847 (SCA40) AUTHORS Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY TITLE A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. JOURNAL J Med Genet 51:590-5 (2014) DOI:10.1136/jmedgenet-2014-102333 PMID:21321808 (SCA41) AUTHORS Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE TITLE Candidate screening of the TRPC3 gene in cerebellar ataxia. JOURNAL Cerebellum 10:296-9 (2011) DOI:10.1007/s12311-011-0253-6 PMID:11927664 (SCA42) AUTHORS Chemin J, Monteil A, Perez-Reyes E, Bourinet E, Nargeot J, Lory P TITLE Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. JOURNAL J Physiol 540:3-14 (2002) DOI:10.1113/jphysiol.2001.013269 PMID:27583304 (SCA43) AUTHORS Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M TITLE MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). JOURNAL Neurol Genet 2:e94 (2016) DOI:10.1212/NXG.0000000000000094 PMID:28886343 (SCA44) AUTHORS Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Nemeth AH TITLE Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. JOURNAL Am J Hum Genet 101:451-458 (2017) DOI:10.1016/j.ajhg.2017.08.005 PMID:29053796 (SCA45 SCA46) AUTHORS Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS TITLE Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. JOURNAL Brain 140:2860-2878 (2017) DOI:10.1093/brain/awx251 PMID:29474920 (SCA47) AUTHORS Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY TITLE A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. JOURNAL Cell 172:924-936.e11 (2018) DOI:10.1016/j.cell.2018.02.006 PMID:30381368 (SCA48) AUTHORS Genis D, Ortega-Cubero S, San Nicolas H, Corral J, Gardenyes J, de Jorge L, Lopez E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obon M, Beltran B, Fabregas L, Alemany B, Marquez F, Ramio-Torrenta L, Gich J, Volpini V, Pastor P TITLE Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). JOURNAL Neurology 91:e1988-e1998 (2018) DOI:10.1212/WNL.0000000000006550 PMID:35310830 (SCA49) AUTHORS Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Pineiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A TITLE New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). JOURNAL Brain Commun 4:fcac030 (2022) DOI:10.1093/braincomms/fcac030 PMID:34788392 (SCA50) AUTHORS Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Lariviere R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Numann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Tregouet DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G TITLE NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. JOURNAL Brain 145:1519-1534 (2022) DOI:10.1093/brain/awab407 |