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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 Cover

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

Open Access
|Jun 2020

References

  1. 1Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998; 8: 47479. DOI: 10.1016/S0960-8966(98)00055-8
  2. 2Synofzik M, Soehn A, Gburek-Augustat J, Schicks J, Karle K, Schüle R, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013; 8: 41. DOI: 10.1186/1750-1172-8-41
  3. 3Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. J Neurol. 2008; 255: 8036. DOI: 10.1007/s00415-008-0672-6
  4. 4Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, et al. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. J Mol Neurosci. 2020; 70: 131141. DOI: 10.1007/s12031-019-01410-z
DOI: https://doi.org/10.5334/tohm.68 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 16, 2020
Accepted on: Apr 15, 2020
Published on: Jun 8, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2020 Jindapa Srikajon, Yuvadee Pitakpatapee, Chanin Limwongse, Niphon Chirapapaisan, Prachaya Srivanitchapoom, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.