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000140671 041__ $$aEnglish
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000140671 1001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b0$$eFirst author$$udzne
000140671 245__ $$aSpinocerebellar ataxia.
000140671 260__ $$aBasingstoke$$bNature Publishing Group$$c2019
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000140671 520__ $$aThe spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5. Most SCA mutations cause prominent damage to cerebellar Purkinje neurons with consecutive cerebellar atrophy, although Purkinje neurons are only mildly affected in some SCAs. Furthermore, other parts of the nervous system, such as the spinal cord, basal ganglia and pontine nuclei in the brainstem, can be involved. As there is currently no treatment to slow or halt SCAs (many SCAs lead to premature death), the clinical care of patients with SCA focuses on managing the symptoms through physiotherapy, occupational therapy and speech therapy. Intense research has greatly expanded our understanding of the pathobiology of many SCAs, revealing that they occur via interrelated mechanisms (including proteotoxicity, RNA toxicity and ion channel dysfunction), and has led to the identification of new targets for treatment development. However, the development of effective therapies is hampered by the heterogeneity of the SCAs; specific therapeutic approaches may be required for each disease.
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000140671 650_7 $$2NLM Chemicals$$aNeuroprotective Agents
000140671 650_7 $$07LJ087RS6F$$2NLM Chemicals$$aRiluzole
000140671 650_2 $$2MeSH$$aAge Factors
000140671 650_2 $$2MeSH$$aDisease Progression
000140671 650_2 $$2MeSH$$aHumans
000140671 650_2 $$2MeSH$$aMass Screening: methods
000140671 650_2 $$2MeSH$$aNeuroprotective Agents: therapeutic use
000140671 650_2 $$2MeSH$$aPostural Balance: physiology
000140671 650_2 $$2MeSH$$aRiluzole: therapeutic use
000140671 650_2 $$2MeSH$$aSpeech Disorders: etiology
000140671 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnosis
000140671 650_2 $$2MeSH$$aSpinocerebellar Ataxias: epidemiology
000140671 650_2 $$2MeSH$$aSpinocerebellar Ataxias: therapy
000140671 7001_ $$aMariotti, Caterina$$b1
000140671 7001_ $$aPaulson, Henry L$$b2
000140671 77318 $$2Crossref$$3journal-article$$a10.1038/s41572-019-0074-3$$b : Springer Science and Business Media LLC, 2019-04-11$$n1$$p24$$tNature Reviews Disease Primers$$v5$$x2056-676X$$y2019
000140671 773__ $$0PERI:(DE-600)2819522-X$$a10.1038/s41572-019-0074-3$$gVol. 5, no. 1, p. 24$$n1$$p24$$q5:1<24$$tNature reviews / Disease Primers$$v5$$x2056-676X$$y2019
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000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2017.03.023$$o10.1016/j.neuron.2017.03.023
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.cub.2017.10.054$$o10.1016/j.cub.2017.10.054
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/121.4.589$$o10.1093/brain/121.4.589
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(13)70104-2$$o10.1016/S1474-4422(13)70104-2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(14)70027-4$$o10.1016/S1474-4422(14)70027-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/acn3.504$$o10.1002/acn3.504
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000001711$$o10.1212/WNL.0000000000001711
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1523/JNEUROSCI.2978-04.2004$$o10.1523/JNEUROSCI.2978-04.2004
000140671 999C5 $$2Crossref$$o
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ajmg.10467$$o10.1002/ajmg.10467
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp.64.1.67$$o10.1136/jnnp.64.1.67
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.49.5.1247$$o10.1212/WNL.49.5.1247
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s12311-016-0833-6$$o10.1007/s12311-016-0833-6
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.20424$$o10.1002/ana.20424
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awu174$$o10.1093/brain/awu174
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.24656$$o10.1002/ana.24656
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M$$o10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddg300$$o10.1093/hmg/ddg300
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000325057.33666.72$$o10.1212/01.wnl.0000325057.33666.72
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23584$$o10.1002/mds.23584
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1101/gr.6.10.965$$o10.1101/gr.6.10.965
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1590/S0004-282X2011000200021$$o10.1590/S0004-282X2011000200021
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/7.2.171$$o10.1093/hmg/7.2.171
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1001/archneur.64.10.1510$$o10.1001/archneur.64.10.1510
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000269323.21969.db$$o10.1212/01.wnl.0000269323.21969.db
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nature09320$$o10.1038/nature09320
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000001159$$o10.1212/WNL.0000000000001159
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.10676$$o10.1002/ana.10676
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/B978-0-444-51892-7.00041-3$$o10.1016/B978-0-444-51892-7.00041-3
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1080/00207454.2017.1377198$$o10.1080/00207454.2017.1377198
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/121.4.561$$o10.1093/brain/121.4.561
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23698$$o10.1002/mds.23698
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.parkreldis.2015.11.021$$o10.1016/j.parkreldis.2015.11.021
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22740$$o10.1002/mds.22740
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-018-8954-0$$o10.1007/s00415-018-8954-0
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1001/jamaneurol.2017.5121$$o10.1001/jamaneurol.2017.5121
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.10608$$o10.1002/ana.10608
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/9.14.2125$$o10.1093/hmg/9.14.2125
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/s41588-018-0067-2$$o10.1038/s41588-018-0067-2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/s13024-018-0274-4$$o10.1186/s13024-018-0274-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(09)70305-9$$o10.1016/S1474-4422(09)70305-9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.51.6.1666$$o10.1212/WNL.51.6.1666
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s004390000346$$o10.1007/s004390000346
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awf107$$o10.1093/brain/awf107
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000004311$$o10.1212/WNL.0000000000004311
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.WNL.0000032255.75650.C2$$o10.1212/01.WNL.0000032255.75650.C2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s12687-015-0226-4$$o10.1007/s12687-015-0226-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1590/S1415-47572014000200012$$o10.1590/S1415-47572014000200012
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s10897-011-9383-8$$o10.1007/s10897-011-9383-8
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(15)00202-1$$o10.1016/S1474-4422(15)00202-1
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e31822e7ca0$$o10.1212/WNL.0b013e31822e7ca0
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/1750-1172-8-177$$o10.1186/1750-1172-8-177
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/s13023-014-0118-4$$o10.1186/s13023-014-0118-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23809$$o10.1002/mds.23809
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22627$$o10.1002/mds.22627
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s12311-010-0179-4$$o10.1007/s12311-010-0179-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000219042.60538.92$$o10.1212/01.wnl.0000219042.60538.92
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1001/archneurol.2011.2713$$o10.1001/archneurol.2011.2713
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s12311-017-0885-2$$o10.1007/s12311-017-0885-2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000005055$$o10.1212/WNL.0000000000005055
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(15)00201-X$$o10.1016/S1474-4422(15)00201-X
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.parkreldis.2016.03.005$$o10.1016/j.parkreldis.2016.03.005
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.25803$$o10.1002/mds.25803
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e318247cc7a$$o10.1212/WNL.0b013e318247cc7a
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3181d1a6c9$$o10.1212/WNL.0b013e3181d1a6c9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1097/WNF.0b013e31818736a9$$o10.1097/WNF.0b013e31818736a9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1590/0004-282X20160038$$o10.1590/0004-282X20160038
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-013-6910-6$$o10.1007/s00415-013-6910-6
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1177/1545968317712469$$o10.1177/1545968317712469
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23222$$o10.1002/mds.23222
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1155/2014/583507$$o10.1155/2014/583507
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1177/1545968311425918$$o10.1177/1545968311425918
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22564$$o10.1002/mds.22564
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.rehab.2014.01.002$$o10.1016/j.rehab.2014.01.002
000140671 999C5 $$2Crossref$$oRA Keith 1987$$y1987
000140671 999C5 $$2Crossref$$oAP Vogel 2015$$y2015
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/0168-8510(90)90421-9$$o10.1016/0168-8510(90)90421-9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.nrl.2015.09.002$$o10.1016/j.nrl.2015.09.002
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000324863.76290.19$$o10.1212/01.wnl.0000324863.76290.19
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awn059$$o10.1093/brain/awn059
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.26835$$o10.1002/mds.26835
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuroimage.2009.07.027$$o10.1016/j.neuroimage.2009.07.027
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awv064$$o10.1093/brain/awv064
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.43.2.318$$o10.1212/WNL.43.2.318
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-008-0907-6$$o10.1007/s00415-008-0907-6
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s12311-017-0854-9$$o10.1007/s12311-017-0854-9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/aws369$$o10.1093/brain/aws369
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0089410$$o10.1371/journal.pone.0089410
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.nicl.2018.06.011$$o10.1016/j.nicl.2018.06.011
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0200258$$o10.1371/journal.pone.0200258
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.25451$$o10.1002/mds.25451
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awh201$$o10.1093/brain/awh201
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-015-7788-2$$o10.1007/s00415-015-7788-2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.25212$$o10.1002/ana.25212
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/s40673-014-0017-4$$o10.1186/s40673-014-0017-4
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-018-8893-9$$o10.1007/s00415-018-8893-9
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-012-6595-2$$o10.1007/s00415-012-6595-2
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddv442$$o10.1093/hmg/ddv442
000140671 999C5 $$2Crossref$$oDR Scoles 2018$$y2018
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/mt.2013.144$$o10.1038/mt.2013.144
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.24789$$o10.1002/ana.24789
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1126/scitranslmed.aaf5660$$o10.1126/scitranslmed.aaf5660
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/nar/gkx483$$o10.1093/nar/gkx483
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.omtn.2017.06.017$$o10.1016/j.omtn.2017.06.017
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nature22044$$o10.1038/nature22044
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.omtn.2017.06.019$$o10.1016/j.omtn.2017.06.019
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.25264$$o10.1002/ana.25264
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ncomms11647$$o10.1038/ncomms11647
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1089/nat.2018.0720$$o10.1089/nat.2018.0720
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/aww228$$o10.1093/brain/aww228
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awv262$$o10.1093/brain/awv262
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/cns.12795$$o10.1111/cns.12795
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1155/2016/6701793$$o10.1155/2016/6701793
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddy328$$o10.1093/hmg/ddy328
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/0092-8674(91)90397-H$$o10.1016/0092-8674(91)90397-H
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/B978-0-444-63233-3.00025-7$$o10.1016/B978-0-444-63233-3.00025-7
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/978-3-319-89689-2_8$$o10.1007/978-3-319-89689-2_8
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1089/hum.2015.014$$o10.1089/hum.2015.014
000140671 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/jnc.13623$$o10.1111/jnc.13623
000140671 999C5 $$2Crossref$$oJ Staisch 2016$$y2016