Атаксии с нарушением репарации ДНК у пациентов взрослого возраста: описание серии клинических случаев и обзор литературы

Introduction . Ataxia with impaired DNA repair is a group of inherited diseases with a wide range of neurological and extraneural manifestations. There are some difficulties in the differential diagnosis of this group of ataxias due to significant clinical polymorphism. Objective . To analyze the clinical presentation, laboratory and instrumental examinations data of a series of genetically confirmed cases of ataxia with impaired DNA repair in adult patients. Material and methods . 55 patients with ataxia of degenerative origin were examined. Clinical evaluation, nerve velocity study, brain MRI, alpha-fetoprotein, immunoglobulins, cholesterol and albumin, creatine phosphokinase activity were performed. Massive parallel sequencing (MPS) was used for genotyping, including the original multigene panel. Results . 8 (14.5%) patients with various forms of ataxia with impaired DNA repair were verified: 5 patients with ataxia-telangiectasia, 3 — with ataxia with oculomotor apraxia types 1 and 2. The clinical features of this forms are characterized, the prevalence of atypical forms of ataxia-telangiectasia in a sample of Russian adult patients is revealed. Phenotypes of ataxia with oculomotor apraxia of the 1 and 2 types corresponded to the classical presentation. Several identified mutations in the ATM and SETX genes are described for the first time. Conclusion . Ataxia with impaired DNA repair is a common group of ataxias in adult Russian patients. They are represented by ataxia-telangiectasia, ataxia with oculomotor apraxia types 1 and 2, often due to new mutations. MPS is the method of choice for genotyping of these forms of ataxia.

• Publication year

  2020

• Venue

  Unknown venue

• Publication date

  2020-07-22

• Fields of study

  Medicine

• Identifiers
  DOI 10.30629/2658-7947-2020-25-2-28-36
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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