A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

  • Georgia XiromerisiouEmail author
  • Katerina Dadouli
  • Chrysoula Marogianni
  • Antonios Provatas
  • Panagiotis Ntellas
  • Dimitrios Rikos
  • Pantelis Stathis
  • Despina Georgouli
  • Gedeon Loules
  • Maria Zamanakou
  • Georgios M. Hadjigeorgiou


ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous parents, presenting with cerebellar ataxia and peripheral neuropathy. Whole-exome sequencing revealed the presence of a novel homozygous variant in the SACS gene. The variant was confirmed by Sanger sequencing and found at heterozygous state in both parents. This is the first reported mutation in this gene, in Greek population. This case report further highlights the growing trend of identifying genetic diseases previously restricted to single, ethnically isolated regions in many different ethnic groups worldwide. Additionally, we performed a systematic review of all published cases with SACs mutations. ARSACS seems to be an important cause of ataxia and many different types of mutations have been identified, mainly located in exon 10. We evaluated the mutation pathogenicity in all previously reported cases to investigate possible phenotype-genotype correlations. We managed to find a correlation between the pathogenicity of mutations, severity of the phenotype, and age of onset of ARSACS. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various ARSACS variants.


Autosomal recessive spastic ataxia of Charlevoix-Saguenay ARSACS SACS gene Spastic ataxia Ataxia and polyneuropathy 



We are grateful to patients and their family for contributing to this study.

Compliance with Ethical Standards

Written informed consent for participation was obtained from patients and their guardians according to the Declaration of Helsinki and protocols were approved by the institutional review boards of the the Ethics Committee of the University Hospital of Larissa.

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12031_2019_1410_MOESM1_ESM.docx (254 kb)
A. 1 (DOCX 32 kb)


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Georgia Xiromerisiou
    • 1
    Email author
  • Katerina Dadouli
    • 2
  • Chrysoula Marogianni
    • 3
  • Antonios Provatas
    • 3
  • Panagiotis Ntellas
    • 4
  • Dimitrios Rikos
    • 3
  • Pantelis Stathis
    • 5
  • Despina Georgouli
    • 3
  • Gedeon Loules
    • 8
  • Maria Zamanakou
    • 8
  • Georgios M. Hadjigeorgiou
    • 6
    • 7
  1. 1.Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of ThessalyLarissaGreece
  2. 2.Department of Hygiene and Epidemiology, Faculty of MedicineUniversity of ThessalyLarissaGreece
  3. 3.Department of Neurology, University of ThessalyUniversity Hospital of LarissaLarissaGreece
  4. 4.Department of Medical OncologyUniversity Hospital of IoanninaIoanninaGreece
  5. 5.Department of NeurologyMediterraneo HospitalAthensGreece
  6. 6.Department of Neurology, Laboratory of Neurogenetics, University of ThessalyUniversity Hospital of LarissaLarissaGreece
  7. 7.Department of Neurology, Medical SchoolUniversity of CyprusNicosiaCyprus
  8. 8.CeMIA S.A.LarissaGreece

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