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This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic SACS mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with SACS mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without SACS mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with SACS mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with SACS mutations and broaden the clinical spectrum. We suggest screening for SACS in recessive CMT patients with complex phenotypes of ataxia and spasticity.<\/jats:p>","DOI":"10.3390\/ijms25126378","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T10:08:43Z","timestamp":1718014123000},"page":"6378","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity"],"prefix":"10.3390","volume":"25","author":[{"given":"Byung Kwon","family":"Pi","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7052-2432","authenticated-orcid":false,"given":"Yeon Hak","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Neurology, Korea University Guro Hospital, College of Medicine, Korea University, 148 Gurodong-ro, Guro-gu, Seoul 08308, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Su","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Gangnam-gu, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ah Jin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da Eun","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Domestic Business, Macrogen, Inc., 238 Teheran-ro, Gangnam-gu, Seoul 06221, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyung Jun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital, College of Medicine, Yonsei University, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang Beom","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, 892 Dongnam-ro, Gangdong-gu, Seoul 05278, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Gangnam-gu, Seoul 06351, Republic of Korea"},{"name":"Department of Neurology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, 81 Irwonr-ro, Gangnam-gu, Seoul 06351, Republic of Korea"},{"name":"Department of Health Science and Technology, Samsung Advanced Institute for Health Sciences and Technology, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot-Marie-Tooth disease: Opportunities and challenges","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1385\/NMM:8:1-2:3","article-title":"Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease","volume":"8","author":"Pareyson","year":"2006","journal-title":"Neuromol. Med."},{"key":"ref_3","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_4","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_5","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_6","doi-asserted-by":"crossref","unstructured":"Zaman, Q., Khan, M.A., Sahar, K., Rehman, G., Khan, H., Rehman, M., Ahmad, I., Tariq, M., and Muthaffar, O.Y. (2023). Novel variants in MPV17, PRX, GJB1, and SACS cause Charcot-Marie-Tooth and spastic ataxia of Charlevoix-Saguenay type diseases. Genes, 14.","DOI":"10.3390\/genes14020328"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1212\/WNL.0b013e31821a441e","article-title":"MFN2 mutations cause severe phenotypes in most patients with CMT2A","volume":"76","author":"Feely","year":"2011","journal-title":"Neurology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mdc3.12184","article-title":"An update on the hereditary spastic paraplegias: New genes and new disease models","volume":"2","author":"Kumar","year":"2015","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00415-019-09196-1","article-title":"Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants","volume":"266","author":"Toft","year":"2019","journal-title":"J. Neurol."},{"key":"ref_10","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."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1006\/geno.1999.6003","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosome region 13q11","volume":"62","author":"Engert","year":"1999","journal-title":"Genomics"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Aly, K.A., Moutaoufik, M.T., Zilocchi, M., Phanse, S., and Babu, M. (2022). Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Curr. Opin. Chem. Biol., 71.","DOI":"10.1016\/j.cbpa.2022.102211"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Bagaria, J., Bagyinszky, E., and An, S.S.A. (2022). Genetics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and role of SACSin in neurodegeneration. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23010552"},{"key":"ref_14","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_15","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_16","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1093\/hmg\/ddu491","article-title":"SACS knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"24","author":"Lariviere","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Murtinheira, F., Migueis, M., Letra-Vilela, R., Diallo, M., Quezada, A., Valente, C.A., Oliva, A., Rodriguez, C., Martin, V., and Herrera, F. (2022). SACSin deletion induces aggregation of glial intermediate filaments. Cells, 11.","DOI":"10.3390\/cells11020299"},{"key":"ref_18","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_19","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_20","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_21","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/1750-1172-8-41","article-title":"Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): Expanding the genetic, clinical and imaging spectrum","volume":"8","author":"Synofzik","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.2169\/internalmedicine.51.7374","article-title":"A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"51","author":"Miyatake","year":"2012","journal-title":"Intern. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"395","DOI":"10.5692\/clinicalneurol.cn-000879","article-title":"Autosomal recessive spinocerebellar ataxias in Japan","volume":"56","author":"Tanaka","year":"2016","journal-title":"Rinsho Shinkeigaku"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"3963","DOI":"10.2169\/internalmedicine.7401-21","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay without spasticity","volume":"60","author":"Aida","year":"2021","journal-title":"Intern. Med."},{"key":"ref_25","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_26","doi-asserted-by":"crossref","first-page":"845318","DOI":"10.3389\/fneur.2022.845318","article-title":"A novel SACS variant identified in a Chinese patient: Case report and review of the literature","volume":"13","author":"Chen","year":"2022","journal-title":"Front. Neurol."},{"key":"ref_27","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."},{"key":"ref_28","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_29","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_30","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_31","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1111\/cge.13625","article-title":"Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia","volume":"96","author":"Shakya","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.pediatrneurol.2022.02.007","article-title":"Childhood-onset hereditary spastic paraplegia (HSP): A case series and review of literature","volume":"130","author":"Panwala","year":"2022","journal-title":"Pediatr. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1002\/humu.23560","article-title":"Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies","volume":"39","author":"Karakaya","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/00003086-199407000-00014","article-title":"Fatty muscle degeneration in cuff ruptures: Pre- and postoperative evaluation by CT scan","volume":"304","author":"Goutallier","year":"1994","journal-title":"Clin. Orthop. Relat. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"52","DOI":"10.3988\/jcn.2021.17.1.52","article-title":"Clinical and neuroimaging features in Charcot-Marie-Tooth patients with GDAP1 mutations","volume":"17","author":"Kim","year":"2021","journal-title":"J. Clin. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Kwon, H.M., Kim, H.S., Kim, S.B., Park, J.H., Nam, D.E., Lee, A.J., Nam, S.H., Hwang, S., Chung, K.W., and Choi, B.O. (2021). Clinical and neuroimaging features in Charcot-Marie-Tooth patients with GNB4 mutations. Life, 11.","DOI":"10.3390\/life11060494"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/cge.12856","article-title":"Genetic causes of moderate to severe hearing loss point to modifiers","volume":"91","author":"Naz","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Kanwal, S., Choi, Y.J., Lim, S.O., Choi, H.J., Park, J.H., Nuzhat, R., Khan, A., Perveen, S., Choi, B.O., and Chung, K.W. (2021). Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. BMC Med. Genom., 14.","DOI":"10.1186\/s12920-021-01019-5"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s13258-022-01349-3","article-title":"Biallelic mutations in Pakistani families with autosomal recessive prelingual nonsyndromic hearing loss","volume":"45","author":"Choi","year":"2023","journal-title":"Genes Genom."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3892\/mmr.2016.5209","article-title":"Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1","volume":"14","author":"Lee","year":"2016","journal-title":"Mol. Med. Rep."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/s10038-019-0636-y","article-title":"Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients","volume":"64","author":"Lee","year":"2019","journal-title":"J. Hum. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1001\/jamaneurol.2013.1250","article-title":"Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene","volume":"70","author":"Lee","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"665","DOI":"10.2340\/16501977-0235","article-title":"Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy","volume":"40","author":"Posch","year":"2008","journal-title":"J. Rehabil. Med."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/12\/6378\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:56:06Z","timestamp":1760108166000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/12\/6378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,9]]},"references-count":43,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["ijms25126378"],"URL":"https:\/\/doi.org\/10.3390\/ijms25126378","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,9]]}}}