KEGG   DISEASE: Spinocerebellar ataxia (SCA)
Entry
H00063                      Disease                                
Name
Spinocerebellar ataxia (SCA)
  Subgroup
Machado-Joseph disease [DS:H01478]
  Supergrp
Spinocerebellar degeneration [DS:H01616]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00063  Spinocerebellar ataxia (SCA)
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00063  Spinocerebellar ataxia (SCA)
Pathway
hsa05017  Spinocerebellar ataxia
Network
nt06462  Spinocerebellar ataxia
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]
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
Reference
  Authors
Rudnicki DD, Margolis RL.
  Title
Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
  Journal
Expert Rev Mol Med 5:1-24 (2003)
DOI:10.1017/S1462399403006598
Reference
  Authors
Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P
  Title
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.
  Journal
Cerebellum 9:148-66 (2010)
DOI:10.1007/s12311-009-0144-2
Reference
  Authors
Sullivan R, Yau WY, O'Connor E, Houlden H
  Title
Spinocerebellar ataxia: an update.
  Journal
J Neurol 266:533-544 (2019)
DOI:10.1007/s00415-018-9076-4
Reference
  Authors
Soong BW, Paulson HL
  Title
Spinocerebellar ataxias: an update.
  Journal
Curr Opin Neurol 20:438-46 (2007)
DOI:10.1097/WCO.0b013e3281fbd3dd
Reference
  Authors
Albin RL
  Title
Dominant ataxias and Friedreich ataxia: an update.
  Journal
Curr Opin Neurol 16:507-14 (2003)
DOI:10.1097/01.wco.0000084230.82329.d5
Reference
PMID:10525976 (SCA1, SCA2, SCA3)
  Authors
Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
  Title
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
  Journal
J Neurol 246:789-97 (1999)
DOI:10.1007/s004150050456
Reference
PMID:17390258 (SCA3)
  Authors
Paulson HL
  Title
Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.
  Journal
Semin Neurol 27:133-42 (2007)
DOI:10.1055/s-2007-971172
Reference
PMID:18317266 (SCA3)
  Authors
Rub U, Brunt ER, Deller T
  Title
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).
  Journal
Curr Opin Neurol 21:111-6 (2008)
DOI:10.1097/WCO.0b013e3282f7673d
Reference
PMID:16927298 (SCA5)
  Authors
Bauer P, Schols L, Riess O
  Title
Spectrin mutations in spinocerebellar ataxia (SCA).
  Journal
Bioessays 28:785-7 (2006)
DOI:10.1002/bies.20443
Reference
PMID:8988170 (SCA6)
  Authors
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC
  Title
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
  Journal
Nat Genet 15:62-9 (1997)
DOI:10.1038/ng0197-62
Reference
PMID:9288099 (SCA7)
  Authors
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
  Title
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
  Journal
Nat Genet 17:65-70 (1997)
DOI:10.1038/ng0997-65
Reference
PMID:10192387 (SCA8)
  Authors
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP
  Title
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
  Journal
Nat Genet 21:379-84 (1999)
DOI:10.1038/7710
Reference
PMID:11017075 (SCA10)
  Authors
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
  Title
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
  Journal
Nat Genet 26:191-4 (2000)
DOI:10.1038/79911
Reference
PMID:18037885 (SCA11)
  Authors
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
  Title
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
  Journal
Nat Genet 39:1434-6 (2007)
DOI:10.1038/ng.2007.43
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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