| H00063 | |
| H番号 | H00063 |
| 名称 | 脊髄小脳失調症 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 疾患パスウェイ hsa05017 脊髄小脳失調症 |
| ネットワーク | nt06410(H00063) Calcium signaling nt06411(H00063) Potassium transport nt06413(H00063) Autophagy nt06415(H00063) PI3K signaling nt06440(H00063) Transcription nt06462 Spinocerebellar ataxia nt06528 Calcium signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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) |
| リンク | 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 |
| 文献 | PMID:14585172 著者 Rudnicki DD, Margolis RL. タイトル Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. 雑誌 Expert Rev Mol Med 5:1-24 (2003) DOI:10.1017/S1462399403006598 PMID:19890685 著者 Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P タイトル Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. 雑誌 Cerebellum 9:148-66 (2010) DOI:10.1007/s12311-009-0144-2 PMID:30284037 著者 Sullivan R, Yau WY, O'Connor E, Houlden H タイトル Spinocerebellar ataxia: an update. 雑誌 J Neurol 266:533-544 (2019) DOI:10.1007/s00415-018-9076-4 PMID:17620880 著者 Soong BW, Paulson HL タイトル Spinocerebellar ataxias: an update. 雑誌 Curr Opin Neurol 20:438-46 (2007) DOI:10.1097/WCO.0b013e3281fbd3dd PMID:12869811 著者 Albin RL タイトル Dominant ataxias and Friedreich ataxia: an update. 雑誌 Curr Opin Neurol 16:507-14 (2003) DOI:10.1097/01.wco.0000084230.82329.d5 PMID:10525976 (SCA1, SCA2, SCA3) 著者 Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T タイトル Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. 雑誌 J Neurol 246:789-97 (1999) DOI:10.1007/s004150050456 PMID:17390258 (SCA3) 著者 Paulson HL タイトル Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. 雑誌 Semin Neurol 27:133-42 (2007) DOI:10.1055/s-2007-971172 PMID:18317266 (SCA3) 著者 Rub U, Brunt ER, Deller T タイトル New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). 雑誌 Curr Opin Neurol 21:111-6 (2008) DOI:10.1097/WCO.0b013e3282f7673d PMID:16927298 (SCA5) 著者 Bauer P, Schols L, Riess O タイトル Spectrin mutations in spinocerebellar ataxia (SCA). 雑誌 Bioessays 28:785-7 (2006) DOI:10.1002/bies.20443 PMID:8988170 (SCA6) 著者 Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC タイトル Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 雑誌 Nat Genet 15:62-9 (1997) DOI:10.1038/ng0197-62 PMID:9288099 (SCA7) 著者 David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A タイトル Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. 雑誌 Nat Genet 17:65-70 (1997) DOI:10.1038/ng0997-65 PMID:10192387 (SCA8) 著者 Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP タイトル An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) 雑誌 Nat Genet 21:379-84 (1999) DOI:10.1038/7710 PMID:11017075 (SCA10) 著者 Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T タイトル Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. 雑誌 Nat Genet 26:191-4 (2000) DOI:10.1038/79911 PMID:18037885 (SCA11) 著者 Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW タイトル Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 雑誌 Nat Genet 39:1434-6 (2007) DOI:10.1038/ng.2007.43 PMID:10581021 (SCA12) 著者 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 タイトル Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. 雑誌 Nat Genet 23:391-2 (1999) DOI:10.1038/70493 PMID:16501573 (SCA13) 著者 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 タイトル Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. 雑誌 Nat Genet 38:447-51 (2006) DOI:10.1038/ng1758 PMID:12644968 (SCA14) 著者 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 タイトル Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 雑誌 Am J Hum Genet 72:839-49 (2003) DOI:10.1086/373883 PMID:17590087 (SCA15) 著者 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 タイトル Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. 雑誌 PLoS Genet 3:e108 (2007) DOI:10.1371/journal.pgen.0030108 PMID:10484774 (SCA17) 著者 Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S タイトル A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? 雑誌 Hum Mol Genet 8:2047-53 (1999) DOI:10.1093/hmg/8.11.2047 PMID:23280838 (SCA19/22) 著者 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 タイトル Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 雑誌 Ann Neurol 72:870-80 (2012) DOI:10.1002/ana.23700 PMID:25070513 (SCA21) 著者 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 タイトル TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 雑誌 Brain 137:2657-63 (2014) DOI:10.1093/brain/awu202 PMID:21035104 (SCA23) 著者 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 タイトル Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 雑誌 Am J Hum Genet 87:593-603 (2010) DOI:10.1016/j.ajhg.2010.10.001 PMID:23001565 (SCA26) 著者 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 タイトル A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. 雑誌 Hum Mol Genet 21:5472-83 (2012) DOI:10.1093/hmg/dds392 PMID:12489043 (SCA27) 著者 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 タイトル A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. 雑誌 Am J Hum Genet 72:191-9 (2003) DOI:10.1086/345488 PMID:20208537 (SCA28) 著者 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 タイトル Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 雑誌 Nat Genet 42:313-21 (2010) DOI:10.1038/ng.544 PMID:22986007 (SCA29) 著者 Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM タイトル Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 雑誌 Orphanet J Rare Dis 7:67 (2012) DOI:10.1186/1750-1172-7-67 PMID:19878914 (SCA31) 著者 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 タイトル Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. 雑誌 Am J Hum Genet 85:544-57 (2009) DOI:10.1016/j.ajhg.2009.09.019 PMID:24566826 (SCA34) 著者 Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P タイトル Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. 雑誌 JAMA Neurol 71:470-5 (2014) DOI:10.1001/jamaneurol.2013.6337 PMID:25253745 (SCA35) 著者 Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW タイトル Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. 雑誌 Neurology 83:1554-61 (2014) DOI:10.1212/WNL.0000000000000909 PMID:21683323 (SCA36) 著者 Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A タイトル Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. 雑誌 Am J Hum Genet 89:121-30 (2011) DOI:10.1016/j.ajhg.2011.05.015 PMID:28686858 (SCA37) 著者 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 タイトル A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. 雑誌 Am J Hum Genet 101:87-103 (2017) DOI:10.1016/j.ajhg.2017.06.007 PMID:25065913 (SCA38) 著者 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 タイトル ELOVL5 mutations cause spinocerebellar ataxia 38. 雑誌 Am J Hum Genet 95:209-17 (2014) DOI:10.1016/j.ajhg.2014.07.001 PMID:25062847 (SCA40) 著者 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 タイトル A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. 雑誌 J Med Genet 51:590-5 (2014) DOI:10.1136/jmedgenet-2014-102333 PMID:21321808 (SCA41) 著者 Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE タイトル Candidate screening of the TRPC3 gene in cerebellar ataxia. 雑誌 Cerebellum 10:296-9 (2011) DOI:10.1007/s12311-011-0253-6 PMID:11927664 (SCA42) 著者 Chemin J, Monteil A, Perez-Reyes E, Bourinet E, Nargeot J, Lory P タイトル Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. 雑誌 J Physiol 540:3-14 (2002) DOI:10.1113/jphysiol.2001.013269 PMID:27583304 (SCA43) 著者 Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M タイトル MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). 雑誌 Neurol Genet 2:e94 (2016) DOI:10.1212/NXG.0000000000000094 PMID:28886343 (SCA44) 著者 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 タイトル Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. 雑誌 Am J Hum Genet 101:451-458 (2017) DOI:10.1016/j.ajhg.2017.08.005 PMID:29053796 (SCA45 SCA46) 著者 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 タイトル Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 雑誌 Brain 140:2860-2878 (2017) DOI:10.1093/brain/awx251 PMID:29474920 (SCA47) 著者 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 タイトル A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 雑誌 Cell 172:924-936.e11 (2018) DOI:10.1016/j.cell.2018.02.006 PMID:30381368 (SCA48) 著者 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 タイトル Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). 雑誌 Neurology 91:e1988-e1998 (2018) DOI:10.1212/WNL.0000000000006550 PMID:35310830 (SCA49) 著者 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 タイトル New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). 雑誌 Brain Commun 4:fcac030 (2022) DOI:10.1093/braincomms/fcac030 PMID:34788392 (SCA50) 著者 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 タイトル NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. 雑誌 Brain 145:1519-1534 (2022) DOI:10.1093/brain/awab407 |