{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T18:50:57Z","timestamp":1792608657002,"version":"4.5.0"},"reference-count":138,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2021R1A6A1A03038996"],"award-info":[{"award-number":["2021R1A6A1A03038996"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","award":["2020R1A2B5B01002463"],"award-info":[{"award-number":["2020R1A2B5B01002463"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes, and retinal optic nerve hypermyelination is detected in the majority of patients. Other symptoms, such as pes cavus, ataxia and limb deformities, are also frequently observed in affected individuals. More than 200 mutations have been discovered in the SACS gene around the world. Besides French Canadians, SACS genetics have been extensively studied in Tunisia or Japan. Recently, emerging studies discovered SACS mutations in several other countries. SACS mutations could be associated with pathogenicity either in the homozygous or compound heterozygous stages. Sacsin has been confirmed to be involved in chaperon activities, controlling the microtubule balance or cell migration. Additionally, sacsin may also play a crucial role in regulating the mitochondrial functions. Through these mechanisms, it may share common mechanisms with other neurodegenerative diseases. Further studies are needed to define the exact functions of sacsin. This review introduces the genetic mutations discovered in the SACS gene and discusses its pathomechanisms and its possible involvement in other neurodegenerative diseases.<\/jats:p>","DOI":"10.3390\/ijms23010552","type":"journal-article","created":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T01:15:26Z","timestamp":1641518126000},"page":"552","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0211-7803","authenticated-orcid":false,"given":"Jaya","family":"Bagaria","sequence":"first","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0487-8668","authenticated-orcid":false,"given":"Eva","family":"Bagyinszky","sequence":"additional","affiliation":[{"name":"Department of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong Soo A.","family":"An","sequence":"additional","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/j.1440-1789.2006.00664.x","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"26","author":"Takiyama","year":"2006","journal-title":"Neuropathology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1093\/hmg\/ddp067","article-title":"The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1","volume":"18","author":"Parfitt","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2982","DOI":"10.1096\/fj.201801556R","article-title":"Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics","volume":"33","author":"Gentil","year":"2019","journal-title":"FASEB J."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Synofzik, M., Soehn, A.S., Gburek-Augustat, J., Schicks, J., Karle, K.N., Sch\u00fcle, R., Haack, T.B., Sch\u00f6ning, M., Biskup, S., and Rudnik-Sch\u00f6neborn, S. (2013). Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): Expanding the genetic, clinical and imaging spectrum. Orphanet J. Rare Dis., 8.","DOI":"10.1186\/1750-1172-8-41"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/72769","article-title":"ARSACS, a spastic ataxia common in northeastern Qu\u00e9bec, is caused by mutations in a new gene encoding an 11.5-kb ORF","volume":"24","author":"Engert","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/gepi.1370100103","article-title":"Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec","volume":"10","author":"Giasson","year":"1993","journal-title":"Genet. Epidemiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajpa.1330980102","article-title":"Genetic consequences of differential demographic behaviour in the Saguenay region, Qu\u00e9bec","volume":"98","author":"Heyer","year":"1995","journal-title":"Am. J. Phys. Anthr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1080\/14734220701230466","article-title":"Sacsinopathies: Sacsin-related ataxia","volume":"6","author":"Takiyama","year":"2007","journal-title":"Cerebellum"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/S0960-8966(98)00055-8","article-title":"Autosomal recessive spastic ataxia of Charlevoix\u2013Saguenay","volume":"8","author":"Bouchard","year":"1998","journal-title":"Neuromuscul. Disord."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/j.1399-0004.2005.00497.x","article-title":"Population history and its impact on medical genetics in Quebec","volume":"68","author":"Laberge","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.parkreldis.2011.03.005","article-title":"Autosomal recessive spastic ataxia of Charlevoix\u2013Saguenay: An overview","volume":"17","author":"Bouhlal","year":"2011","journal-title":"Park. Relat. Disord."},{"key":"ref_12","first-page":"727","article-title":"Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"24","author":"Gaudet","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/humu.22269","article-title":"Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture","volume":"34","author":"Romano","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Slanzi, A., Iannoto, G., Rossi, B., Zenaro, E., and Constantin, G. (2020). In vitro Models of Neurodegenerative Diseases. Front. Cell Dev. Biol., 8.","DOI":"10.3389\/fcell.2020.00328"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"4253","DOI":"10.1113\/JP275902","article-title":"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS","volume":"596","author":"Ady","year":"2018","journal-title":"J. Physiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1111\/nan.12540","article-title":"Short Review: Investigating ARSACS: Models for understanding cerebellar degeneration","volume":"45","author":"Castro","year":"2019","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Romano, L.E., Aw, W.Y., Hixson, K.M., Novoselova, T.V., Havener, T.M., Howell, S., Hall, C.L., Xing, L., Beri, J., and Nethisinghe, S. (2021). The ataxia protein sacsin is required for integrin trafficking and synaptic organization. bioRxiv.","DOI":"10.1101\/2021.08.20.456807"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/978-1-62703-640-5_2","article-title":"Considerations for the use of SH-SY5Y neuroblastoma cells in neurobiology","volume":"1078","author":"Kovalevich","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2755","DOI":"10.1007\/s00415-015-7911-4","article-title":"Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"262","author":"Criscuolo","year":"2015","journal-title":"J. Neurol."},{"key":"ref_20","first-page":"3130","article-title":"Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin","volume":"26","author":"Duncan","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1073\/pnas.1113166109","article-title":"Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"109","author":"Girard","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"301","DOI":"10.2174\/1570159X17666191021141057","article-title":"Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response","volume":"18","author":"Mesdom","year":"2020","journal-title":"Curr. Neuropharmacol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.neuroscience.2016.01.067","article-title":"Human dermal fibroblasts in psychiatry research","volume":"320","author":"Garbett","year":"2016","journal-title":"Neuroscience"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Nejaddehbashi, F., Bayati, V., Mashali, L., Hashemitabar, M., Abbaspour, M., Moghimipour, E., and Orazizadeh, M. (2019). Isolating human dermal fibroblasts using serial explant culture. Stem Cell Investig., 6.","DOI":"10.21037\/sci.2019.08.05"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.scr.2018.07.012","article-title":"Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene","volume":"31","author":"Arellano","year":"2018","journal-title":"Stem Cell Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1002\/mds.26357","article-title":"Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases","volume":"30","author":"Li","year":"2015","journal-title":"Mov. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"20407","DOI":"10.1074\/jbc.M111.232884","article-title":"Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)","volume":"286","author":"Kozlov","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/j.jmb.2010.05.023","article-title":"The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration","volume":"400","author":"Anderson","year":"2010","journal-title":"J. Mol. Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"12832","DOI":"10.1074\/jbc.RA118.003939","article-title":"Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations","volume":"293","author":"Kozlov","year":"2018","journal-title":"J. Biol. Chem."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.cell.2010.01.026","article-title":"The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc","volume":"140","author":"Greer","year":"2010","journal-title":"Cell"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Dabbaghizadeh, A., Par\u00e9, A., Cheng-Boivin, Z., Dagher, R., Minotti, S., Dicaire, M.J., Bernard, B., Young, J.C., Durham, H.D., and Gentil, B.J. (2021). The J domain of sacsin disrupts intermediate filament assembly. bioRxiv.","DOI":"10.1101\/2021.07.14.452331"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Li, X., M\u00e9nade, M., Kozlov, G., Hu, Z., Dai, Z., McPherson, P.S., Brais, B., and Gehring, K. (2015). High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0137298"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/S0968-0004(03)00060-4","article-title":"HEPN: A common domain in bacterial drug resistance and human neurodegenerative proteins","volume":"28","author":"Grynberg","year":"2003","journal-title":"Trends Biochem. Sci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"3232","DOI":"10.1093\/hmg\/ddw173","article-title":"A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay","volume":"25","author":"Bradshaw","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/ana.24509","article-title":"New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"78","author":"Pilliod","year":"2015","journal-title":"Ann. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Morani, F., Doccini, S., Chiorino, G., Fattori, F., Galatolo, D., Sciarrillo, E., Gemignani, F., Z\u00fcchner, S., Bertini, E.S., and Santorelli, F.M. (2020). Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology. Front. Neurol., 11.","DOI":"10.3389\/fneur.2020.603774"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1136\/jmedgenet-2021-107809","article-title":"Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability","volume":"58","author":"Bchetnia","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e2315","DOI":"10.1212\/WNL.0000000000012962","article-title":"Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis","volume":"97","author":"Longo","year":"2021","journal-title":"Neurology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0317167100012968","article-title":"Diversity of ARSACS Mutations in French-Canadians","volume":"40","author":"Thiffault","year":"2013","journal-title":"Can. J. Neurol. Sci.\/J. Can. Sci. Neurol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0317167100024793","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"5","author":"Bouchard","year":"1978","journal-title":"Can. J. Neurol. Sci.\/J. Can. des Sci. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1017\/S0317167100016334","article-title":"Forge Canada Consortium Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype","volume":"41","author":"McKenzie","year":"2014","journal-title":"Can. J. Neurol. Sci. J. Can. Sci. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/302274","article-title":"Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11","volume":"64","author":"Richter","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1001\/archneur.60.7.982","article-title":"Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia","volume":"60","author":"Lalani","year":"2003","journal-title":"Arch. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s12031-009-9212-9","article-title":"A Novel SACS Gene Mutation in a Tunisian Family","volume":"39","author":"Bouhlal","year":"2009","journal-title":"J. Mol. Neurosci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/j.1468-1331.2012.03883.x","article-title":"Exome sequencing: An efficient diagnostic tool for complex neurodegenerative disorders","volume":"20","author":"Hammer","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1212\/WNL.62.1.10","article-title":"ARSACS goes global","volume":"62","author":"Gomez","year":"2004","journal-title":"Neurology"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1212\/01.WNL.0000104491.66816.77","article-title":"Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type","volume":"62","author":"Grieco","year":"2004","journal-title":"Neurology"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1212\/WNL.62.1.100","article-title":"A novel mutation in SACS gene in a family from southern Italy","volume":"62","author":"Criscuolo","year":"2004","journal-title":"Neurology"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s10048-019-00564-7","article-title":"Clinical and molecular studies in two new cases of ARSACS","volume":"20","author":"Ricca","year":"2019","journal-title":"Neurogenetics"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1468-1331.2012.03815.x","article-title":"Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series","volume":"20","author":"Prodi","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.radcr.2019.12.024","article-title":"Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings","volume":"15","author":"Pensabene","year":"2020","journal-title":"Radiol. Case Rep."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s12031-010-9448-4","article-title":"Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS","volume":"43","author":"Anesi","year":"2011","journal-title":"J. Mol. Neurosci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10048-008-0159-8","article-title":"An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss","volume":"10","author":"Terracciano","year":"2009","journal-title":"Neurogenetics"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1007\/s00415-008-0936-1","article-title":"A novel mutation in the SACS gene associated with a complicated form of spastic ataxia","volume":"255","author":"Masciullo","year":"2008","journal-title":"J. Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1055\/s-2001-16616","article-title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families","volume":"32","author":"Paternotte","year":"2001","journal-title":"Neuropediatrics"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s10048-004-0179-y","article-title":"Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey","volume":"5","author":"Richter","year":"2004","journal-title":"Neurogenetics"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1952","DOI":"10.3174\/ajnr.A3488","article-title":"Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"34","author":"Oguz","year":"2013","journal-title":"Am. J. Neuroradiol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jns.2015.06.050","article-title":"Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient","volume":"357","author":"Kurt","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"355","DOI":"10.4103\/JPN.JPN_8_18","article-title":"Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child","volume":"13","author":"Incecik","year":"2018","journal-title":"J. Pediatr. Neurosci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10072-021-05117-1","article-title":"A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"42","author":"Samanci","year":"2021","journal-title":"Neurol. Sci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10048-008-0131-7","article-title":"ARSACS in the Dutch population: A frequent cause of early-onset cerebellar ataxia","volume":"9","author":"Vermeer","year":"2008","journal-title":"Neurogenetics"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.jns.2007.07.022","article-title":"Novel SACS mutation in a Belgian family with sacsin-related ataxia","volume":"264","author":"Ouyang","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","article-title":"Mutations in SACS cause atypical and late-onset forms of ARSACS","volume":"75","author":"Baets","year":"2010","journal-title":"Neurology"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1002\/mds.20579","article-title":"Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia","volume":"20","author":"Criscuolo","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.jns.2015.08.032","article-title":"Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"358","author":"Redondo","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s12031-019-01410-z","article-title":"A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases","volume":"70","author":"Xiromerisiou","year":"2020","journal-title":"J. Mol. Neurosci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.pjnns.2017.08.003","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)\u2014A Polish family with novel SACS mutations","volume":"51","author":"Krygier","year":"2017","journal-title":"Neurol. Neurochir. Polska"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"85","DOI":"10.17116\/jnevro202012002185","article-title":"Spastic ataxia of Charlevoix-Saguenay: The first Russian case report and literature review","volume":"120","author":"Rudenskaya","year":"2020","journal-title":"Zhurnal Nevrol. Psikhiatrii Im. SS Korsakova"},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Tzoulis, C., Johansson, S., Haukanes, B.I., Boman, H., Knappskog, P.M., and Bindoff, L.A. (2013). Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0066145"},{"key":"ref_70","first-page":"911","article-title":"SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy","volume":"137","author":"Vill","year":"2018","journal-title":"Qual. Life Res."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1001\/archneurol.2012.1472","article-title":"Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing","volume":"69","author":"Pyle","year":"2012","journal-title":"Arch. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1093\/brain\/awy028","article-title":"Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"141","author":"Parkinson","year":"2018","journal-title":"Brain"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1016\/j.csbj.2020.07.021","article-title":"A mutation can hide another one: Think Structural Variants!","volume":"18","author":"Miressi","year":"2020","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1002\/ccr3.722","article-title":"Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family","volume":"4","author":"Palmio","year":"2016","journal-title":"Clin. Case Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1002\/mdc3.13216","article-title":"Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay","volume":"8","author":"Petrov","year":"2021","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1038\/ejhg.2008.58","article-title":"A novel genomic disorder: A deletion of the SACS gene leading to Spastic Ataxia of Charlevoix\u2013Saguenay","volume":"16","author":"Breckpot","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_77","first-page":"36","article-title":"Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case","volume":"31","year":"2000","journal-title":"Rev. Neurol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jnnp.2005.077297","article-title":"A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"77","author":"Okawa","year":"2006","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jns.2005.08.005","article-title":"Novel compound heterozygous mutations in sacsin-related ataxia","volume":"239","author":"Yamamoto","year":"2005","journal-title":"J. Neurol. Sci."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1212\/01.wnl.0000204300.94261.ea","article-title":"Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon","volume":"66","author":"Ouyang","year":"2006","journal-title":"Neurology"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/mds.20315","article-title":"Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan","volume":"20","author":"Hara","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jns.2007.02.002","article-title":"An unusual case of a spasticity-lacking phenotype with a novel SACS mutation","volume":"255","author":"Shimazaki","year":"2007","journal-title":"J. Neurol. Sci."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1212\/01.WNL.0000166031.91514.B3","article-title":"A phenotype without spasticity in sacsin-related ataxia","volume":"64","author":"Shimazaki","year":"2005","journal-title":"Neurology"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1002\/mds.21557","article-title":"Sacsin-related ataxia with neither retinal hypermyelination nor spasticity","volume":"22","author":"Hara","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1007\/s00415-008-0672-6","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): Novel compound heterozygous mutations in the SACS gene","volume":"255","author":"Kamada","year":"2008","journal-title":"J. Neurol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1552-6569.2011.00647.x","article-title":"Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS","volume":"23","author":"Shimazaki","year":"2013","journal-title":"J. Neuroimaging"},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Aida, I., Ozawa, T., Fujinaka, H., Goto, K., Ohta, K., and Nakajima, T. (2021). Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity. Intern. Med., 7401\u20137421.","DOI":"10.2169\/internalmedicine.7401-21"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.clineuro.2011.12.019","article-title":"Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"114","author":"Haga","year":"2012","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1017\/cjn.2015.38","article-title":"A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"42","author":"Kwon","year":"2015","journal-title":"Can. J. Neurol. Sci.\/J. Can. Sci. Neurol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"69","DOI":"10.17340\/jkna.2019.1.13","article-title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"37","author":"Bong","year":"2019","journal-title":"J. Korean Neurol. Assoc."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"330","DOI":"10.3341\/kjo.2021.0032","article-title":"Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"35","author":"Cho","year":"2021","journal-title":"Korean J. Ophthalmol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.jns.2016.01.026","article-title":"A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient","volume":"362","author":"Liu","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"ref_93","first-page":"831","article-title":"Novel spastic ataxia of Charlevoix-Saguenay gene compound heterozygous mutations in late onset autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"50","author":"Sun","year":"2017","journal-title":"Chin. J. Neurol."},{"key":"ref_94","doi-asserted-by":"crossref","unstructured":"Luo, W., Chen, Y., Cen, Z., Zheng, X., Chen, S., and Xie, F. (2021). Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia. Neurol. India, 69.","DOI":"10.4103\/0028-3886.310115"},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Lu, Q., Shang, L., Tian, W.T., Cao, L., Zhang, X., and Liu, Q. (2020). Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations. Ann. Transl. Med., 8.","DOI":"10.21037\/atm.2019.11.31"},{"key":"ref_96","first-page":"507","article-title":"Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay","volume":"35","author":"Li","year":"2018","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Wang, Z., Song, Y., Wang, X., Li, X., Xu, F., Si, L., Dong, Y., Yao, T., Zhu, J., and Lai, H. (2021). Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families. Neurosci. Lett., 752.","DOI":"10.1016\/j.neulet.2021.135831"},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Srikajon, J., Pitakpatapee, Y., Limwongse, C., Chirapapaisan, N., and Srivanitchapoom, P. (2020). Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene. Tremor Other Hyperkinetic Mov., 10.","DOI":"10.5334\/tohm.68"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.12998\/wjcc.v8.i8.1477","article-title":"Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature","volume":"8","author":"Shamsah","year":"2020","journal-title":"World J. Clin. Cases"},{"key":"ref_100","doi-asserted-by":"crossref","unstructured":"Habibzadeh, P., Tabatabaei, Z., Inaloo, S., Nashatizadeh, M.M., Synofzik, M., Ostovan, V.R., and Faghihi, M.A. (2020). Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.585136"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1007\/s12031-020-01789-0","article-title":"Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran","volume":"71","author":"Sharifi","year":"2021","journal-title":"J. Mol. Neurosci."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/cge.12279","article-title":"Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families","volume":"86","author":"Faruq","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1002\/mdc3.12520","article-title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication","volume":"4","author":"Agarwal","year":"2017","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1007\/s12311-019-01028-2","article-title":"ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India","volume":"18","author":"Kuchay","year":"2019","journal-title":"Cerebellum"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"374","DOI":"10.4103\/aian.AIAN_16_20","article-title":"SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala","volume":"23","author":"Sheetal","year":"2020","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"395","DOI":"10.4103\/aian.AIAN_670_19","article-title":"Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): Case report of a novel nonsense mutation in the SACS gene","volume":"23","author":"Qavi","year":"2020","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.jns.2016.10.032","article-title":"Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities","volume":"371","author":"Ali","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.parkreldis.2018.02.005","article-title":"Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders","volume":"51","author":"Manzoor","year":"2018","journal-title":"Park. Relat. Disord."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.ejpn.2015.02.005","article-title":"Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder","volume":"19","author":"Blumkin","year":"2015","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1177\/0883073811412825","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Compound heterozygotes for nonsense mutations of the SACS gene","volume":"26","author":"Narayanan","year":"2011","journal-title":"J. Child. Neurol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1001\/jamaneurol.2013.247","article-title":"Clinical application of whole-exome sequencing: A novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia","volume":"70","author":"Liew","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1177\/1352458512469696","article-title":"Copy number variation in pediatric multiple sclerosis","volume":"19","author":"McElroy","year":"2013","journal-title":"Mult. Scler. J."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s00062-018-0665-5","article-title":"Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia","volume":"29","author":"Wagner","year":"2019","journal-title":"Clin. Neuroradiol."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"Dougherty, S.C., Harper, A., Al Saif, H., Vorona, G., and Haines, S.R. (2018). A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American. Front. Neurol., 9.","DOI":"10.3389\/fneur.2018.00956"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/mds.24064","article-title":"Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia","volume":"27","author":"Fogel","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1590\/S0004-282X2011000300004","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): Typical clinical and neuroimaging features in a Brazilian family","volume":"69","author":"Pedroso","year":"2011","journal-title":"Arq. Neuro-Psiquiatr."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1590\/0004-282x20170044","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A family report from South Brazil","volume":"75","author":"Rockenbach","year":"2017","journal-title":"Arq. Neuro-Psiquiatr."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.parkreldis.2018.12.024","article-title":"Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS","volume":"62","author":"Filho","year":"2019","journal-title":"Park. Relat. Disord."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.nmd.2017.11.008","article-title":"Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation","volume":"28","author":"Souza","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"490","DOI":"10.3390\/microarrays4040490","article-title":"SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia","volume":"4","author":"Nickerson","year":"2015","journal-title":"Microarrays"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"3195","DOI":"10.1093\/hmg\/ddg344","article-title":"The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity","volume":"12","author":"Burnett","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Feng, S.-T., Wang, Z.-Z., Yuan, Y.-H., Wang, X.-L., Sun, H.-M., Chen, N.-H., and Zhang, Y. (2020). Dynamin-related protein 1: A protein critical for mitochondrial fission, mitophagy, and neuronal death in Parkinson\u2019s disease. Pharmacol. Res., 151.","DOI":"10.1016\/j.phrs.2019.104553"},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Oliver, D., and Reddy, P.H. (2019). Dynamics of Dynamin-Related Protein 1 in Alzheimer\u2019s Disease and Other Neurodegenerative Diseases. Cells, 8.","DOI":"10.3390\/cells8090961"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.tcb.2012.10.006","article-title":"Mitochondrial dynamics in neurodegeneration","volume":"23","author":"Itoh","year":"2013","journal-title":"Trends Cell Biol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.jmb.2011.06.016","article-title":"The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone","volume":"411","author":"Anderson","year":"2011","journal-title":"J. Mol. Biol."},{"key":"ref_126","doi-asserted-by":"crossref","unstructured":"Campanella, C., Pace, A., Caruso Bavisotto, C., Marzullo, P., Marino Gammazza, A., Buscemi, S., and Palumbo Piccionello, A. (2018). Heat Shock Proteins in Alzheimer\u2019s Disease: Role and Targeting. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19092603"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"13619","DOI":"10.1074\/jbc.RA118.006186","article-title":"Prion disease is accelerated in mice lacking stress-induced heat shock protein 70 (HSP70)","volume":"294","author":"Mays","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Tao, J., Berthet, A., Citron, Y.R., Tsiolaki, P.L., Stanley, R., Gestwicki, J.E., Agard, D.A., and McConlogue, L. (2021). Hsp70 chaperone blocks \u03b1-synuclein oligomer formation via a novel engagement mechanism. J. Biol. Chem., 296.","DOI":"10.1016\/j.jbc.2021.100613"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000477428","article-title":"A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"152","author":"Zeng","year":"2017","journal-title":"Cytogenet. Genome Res."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1002\/mds.28612","article-title":"Retinal architecture in autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): Insights into disease pathogenesis and biomarkers","volume":"36","author":"Bremner","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.jns.2017.03.046","article-title":"Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination","volume":"377","author":"Lessard","year":"2017","journal-title":"J. Neurol. Sci."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jns.2017.01.065","article-title":"Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients","volume":"375","author":"Bui","year":"2017","journal-title":"J. Neurol. Sci."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"164","DOI":"10.5582\/irdr.2018.01060","article-title":"Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study","volume":"7","author":"Audet","year":"2018","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1007\/s00415-019-09258-4","article-title":"Speech treatment improves dysarthria in multisystemic ataxia: A rater-blinded, controlled pilot-study in ARSACS","volume":"266","author":"Vogel","year":"2019","journal-title":"J. Neurol."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"12451","DOI":"10.1021\/acsomega.0c01282","article-title":"Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","volume":"5","author":"Martinelli","year":"2020","journal-title":"ACS Omega"},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Ricca, I., Tessa, A., Trovato, R., Bacci, G.M., and Santorelli, F.M. (2020). Docosahexaenoic acid in ARSACS: Observations in two patients. BMC Neurol., 20.","DOI":"10.1186\/s12883-020-01803-3"},{"key":"ref_137","doi-asserted-by":"crossref","unstructured":"Nethisinghe, S., Abeti, R., Kesavan, M., Wigley, W.C., and Giunti, P. (2021). Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222111722"},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Zuehlke, A.D., Moses, M.A., and Neckers, L. (2017). Heat shock protein 90: Its inhibition and function. Philos. Trans. R. Soc. B Biol. Sci., 373.","DOI":"10.1098\/rstb.2016.0527"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/1\/552\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:36:20Z","timestamp":1760362580000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/1\/552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,4]]},"references-count":138,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1]]}},"alternative-id":["ijms23010552"],"URL":"https:\/\/doi.org\/10.3390\/ijms23010552","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,4]]}}}