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OP-116 New findings in structural and morphometric brain parameters characterization and their correlations with the genotype among patients with various types of mucopolysaccharidosis
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  1. Anastasia Rykunova,
  2. Nato Vashakmadze,
  3. Leyla Namazova-Baranova,
  4. Natalia Zhurkova,
  5. George Karkashadze
  1. Scientifical Research Center of Pediatrics and Children’s Health

Abstract

Aim The aim of this study is to assess the severity of structural and morphometric brain parameters in patients with various types of mucopolysaccharidosis and to find their correlation with the genotype

Material and Method To implement the research objectives, the work was divided into several stages:1 – clinical examination of patients, collection of anamnesis, assessment of clinical, instrumental data (MRI of the brain) and the results of molecular genetic studies conducted previously.2 – creation of our own information database - a single archive of big data necessary for further statistical processing,3 – post-processing analysis of the obtained results and statistical processing of the database

Results It was found that hippocampal atrophy occurs significantly more often in patients with the c.220C>T mutation (p. R74C) in the SGSH gene in the homozygous state than in the compound heterozygous state (p = 0.029); moderate and high severity of focal disorders were identified in 50% of cases in the presence of the nucleotide variant c.220C>T in a homozygous state, and not detected in the presence of this variant in a compound heterozygous state.

Conclusions The pathogenic nucleotide variant c.220C>T (p.R74C) in the homozygous state in the SGSH gene is associated with severe course of MPS III, which will help doctors determine tactics for the management and treatment of patients.

  • MUCOPOLYSACCHARIDOSIS
  • GENETICS
  • RARE DICEASES
  • PEDIATRICS
  • NEUROLOGY

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