KEGG   DISEASE: Autosomal recessive spinocerebellar ataxias
Entry
H01891                      Disease                                

Name
Autosomal recessive spinocerebellar ataxias
  Subgroup
Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN)
Description
Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and often the sensory nerves. They may present as a pure cerebellar syndrome or are associated with neurological symptoms such as peripheral neuropathy, dystonia, chorea, cognitive impairment, optic atrophy, seizures or extra neurological symptoms such as cardiomyopathy and diabetes mellitus in Friedreich ataxia. The main clinical features are staggering gait with frequent falls, upper limb dysmetria, impairment of speech, dysphagia, and abnormalities of eye movement.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H01891  Autosomal recessive spinocerebellar ataxias
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H01891  Autosomal recessive spinocerebellar ataxias
Gene
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706]
(SCAR2) PMPCA [HSA:23203] [KO:K01412]
(SCAR4) VPS13D [HSA:55187] [KO:K19527]
(SCAR7) TPP1 [HSA:1200] [KO:K01279]
(SCAR8) SYNE1 [HSA:23345] [KO:K19326]
(SCAR9) ADCK3 [HSA:56997] [KO:K08869]
(SCAR10) ANO10 [HSA:55129] [KO:K19327]
(SCAR11) SYT14 [HSA:255928] [KO:K19328]
(SCAR12) WWOX [HSA:51741] [KO:K19329]
(SCAR13) GRM1 [HSA:2911] [KO:K04603]
(SCAR14) SPTBN2 [HSA:6712] [KO:K23932]
(SCAR15) KIAA0226 [HSA:9711] [KO:K19330]
(SCAR16) STUB1 [HSA:10273] [KO:K09561]
(SCAR17) CWF19L1 [HSA:55280]
(SCAR18) GRID2 [HSA:2895] [KO:K05207]
(SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
(SCAR20) SNX14 [HSA:57231] [KO:K17926]
(SCAR21) SCYL1 [HSA:57410] [KO:K08876]
(SCAR22) VWA3B [HSA:200403] [KO:K24509]
(SCAR23) TDP2 [HSA:51567] [KO:K19619]
(SCAR24) UBA5 [HSA:79876] [KO:K12164]
(SCAR25) ATG5 [HSA:9474] [KO:K08339]
(SCAR26) XRCC1 [HSA:7515] [KO:K10803]
(SCAR27) GDAP2 [HSA:54834]
(SCAR28) THG1L [HSA:54974] [KO:K10761]
(SCAN1) TDP1 [HSA:55775] [KO:K10862]
(SCAN3) COA7 [HSA:65260] [KO:K18180]
Comment
See also H00063 Spinocerebellar ataxia, H00067 Friedreich ataxia, and H00848 Ataxia with ocular apraxia.
SCAR19 is known as Lichtenstein-Knorr syndrome, and associates sensorineural hearing loss.
Other DBs
ICD-11: 8A03.16
ICD-10: G31.9
MeSH: D020754
OMIM: 606002 213200 609270 610743 607317 612016 613728 614229 614322 614831 615386 615705 615768 616127 616204 616291 616354 616719 607250 616948 616949 617584 617633 618369 618800 617133 618387
Reference
  Authors
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
  Title
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
  Journal
Neurogenetics 11:1-12 (2010)
DOI:10.1007/s10048-009-0196-y
Reference
  Authors
Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tetreault M
  Title
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
  Journal
Brain 139:e19 (2016)
DOI:10.1093/brain/awv362
Reference
  Authors
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
  Title
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
  Journal
Hum Mutat 34:706-13 (2013)
DOI:10.1002/humu.22292
Reference
  Authors
Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA
  Title
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
  Journal
Nat Genet 39:80-5 (2007)
DOI:10.1038/ng1927
Reference
  Authors
Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M
  Title
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
  Journal
Am J Hum Genet 82:661-72 (2008)
DOI:10.1016/j.ajhg.2007.12.024
Reference
  Authors
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N
  Title
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
  Journal
Am J Hum Genet 87:813-9 (2010)
DOI:10.1016/j.ajhg.2010.10.015
Reference
  Authors
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
  Title
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
  Journal
Am J Hum Genet 89:320-7 (2011)
DOI:10.1016/j.ajhg.2011.07.012
Reference
  Authors
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M
  Title
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
  Journal
Brain 137:411-9 (2014)
DOI:10.1093/brain/awt338
Reference
  Authors
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
  Title
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
  Journal
Am J Hum Genet 91:553-64 (2012)
DOI:10.1016/j.ajhg.2012.07.019
Reference
  Authors
Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M
  Title
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
  Journal
Brain 133:2439-47 (2010)
DOI:10.1093/brain/awq181
Reference
  Authors
Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B
  Title
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
  Journal
PLoS One 8:e81884 (2013)
DOI:10.1371/journal.pone.0081884
Reference
  Authors
Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsasser M, Pinkert S, Schlesner M, Bartram CR, Moog U
  Title
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
  Journal
Am J Med Genet A 170:1502-9 (2016)
DOI:10.1002/ajmg.a.37632
Reference
  Authors
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
  Title
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
  Journal
Neurology 81:1378-86 (2013)
DOI:10.1212/WNL.0b013e3182a841a3
Reference
  Authors
Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M
  Title
Mutation of SLC9A1, encoding the major Na(+)/H(+) exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
  Journal
Hum Mol Genet 24:463-70 (2015)
DOI:10.1093/hmg/ddu461
Reference
  Authors
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG
  Title
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
  Journal
Nat Genet 47:528-34 (2015)
DOI:10.1038/ng.3256
Reference
  Authors
Schmidt WM, Kraus C, Hoger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE
  Title
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
  Journal
EMBO Rep 8:691-7 (2007)
DOI:10.1038/sj.embor.7401001
Reference
  Authors
Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
  Title
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
  Journal
EMBO J 26:4732-43 (2007)
DOI:10.1038/sj.emboj.7601885
Reference
  Authors
Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R
  Title
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
  Journal
J Neurol Neurosurg Psychiatry 87:656-62 (2016)
DOI:10.1136/jnnp-2014-309828
Reference
  Authors
Gomez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortes-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW
  Title
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
  Journal
Nat Genet 46:516-21 (2014)
DOI:10.1038/ng.2929
Reference
  Authors
Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B
  Title
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
  Journal
PLoS One 11:e0149039 (2016)
DOI:10.1371/journal.pone.0149039
Reference
  Authors
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
  Title
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
  Journal
Brain 141:1622-1636 (2018)
DOI:10.1093/brain/awy104
Reference
  Authors
Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW
  Title
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
  Journal
Nature 541:87-91 (2017)
DOI:10.1038/nature20790
Reference
  Authors
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schule R, Zuchner S, De Jonghe P, Schenck A, van de Warrenburg BP
  Title
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
  Journal
Brain 141:2592-2604 (2018)
DOI:10.1093/brain/awy198
Reference
  Authors
Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbe K, Shaag A, Jackman JE, Elpeleg O
  Title
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
  Journal
Neurogenetics 17:219-225 (2016)
DOI:10.1007/s10048-016-0487-z

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