{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:54:04Z","timestamp":1768085644867,"version":"3.49.0"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Mutations in the <jats:italic>SACS<\/jats:italic> gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lack of spasticity, hearing loss, and epileptic seizures. Currently, there have been very few case reports regarding the <jats:italic>SACS<\/jats:italic> gene mutation in Chinese patients. Here, we describe a 35-year-old Chinese patient carrying a novel variant in <jats:italic>SACS<\/jats:italic> (c.11486C&amp;gt;T) presenting with progressive ataxia and demyelinating peripheral neuropathy. We then reviewed 22 Chinese cases carrying <jats:italic>SACS<\/jats:italic> gene mutations, including our patient. All of them had a cerebellar ataxia gait and showed cerebellar atrophy on brain magnetic resonance imaging (MRI). A total of 28 <jats:italic>SACS<\/jats:italic> mutations were identified in these patients. Our study further expands the mutation spectrum of the <jats:italic>SACS<\/jats:italic> gene and contributes to the evaluation of genotype-phenotype correlations.<\/jats:p>","DOI":"10.3389\/fneur.2022.845318","type":"journal-article","created":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T23:47:01Z","timestamp":1647992821000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature"],"prefix":"10.3389","volume":"13","author":[{"given":"Yuchao","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojun","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenjuan","family":"Tao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Menglu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haibo","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","doi-asserted-by":"publisher","first-page":"217","DOI":"10.3760\/cma.j.issn.1003-9406.2019.03.006","volume":"36","author":"Zhang","year":"2019","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"B3","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s40035-021-00264-z","article-title":"Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias","volume":"10","author":"Cheng","year":"2021","journal-title":"Transl Neurodegener"},{"key":"B4","doi-asserted-by":"publisher","first-page":"831","DOI":"10.3760\/cma.j.issn.1006-7876.2017.11.007","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":"B5","doi-asserted-by":"publisher","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":"B6","doi-asserted-by":"publisher","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":"B7","doi-asserted-by":"publisher","first-page":"2442.e11","DOI":"10.1016\/j.neurobiolaging.2013.04.029","article-title":"Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders","volume":"34","author":"Chen","year":"2013","journal-title":"Neurobiol Aging"},{"key":"B8","doi-asserted-by":"publisher","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":"B9","doi-asserted-by":"publisher","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. 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