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Skripkina N.A.

Russian Medical Academy of Continuous Professional Education

Datieva V.K.

Russian Medical Academy of Continuous Professional Education

Levin O.S.

Russian Medical Academy of Continuous Professional Education

Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene

Authors:

Skripkina N.A., Datieva V.K., Levin O.S.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(9): 104‑110

DOI: 10.17116/jnevro2021121091104

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Table of contents

CASE-REPORT OF NEUROACANTHOCYTOSIS ASSOCIATED WITH A COMPOUND MUTATION IN THE VPS13A GENE
CASE-REPORT OF NEUROACANTHOCYTOSIS ASSOCIATED WITH A COMPOUND MUTATION IN THE VPS13A GENE

To cite this article:

Skripkina NA, Datieva VK, Levin OS. Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(9):104‑110. (In Russ.)
https://doi.org/10.17116/jnevro2021121091104

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Neuroacanthocytosis is a group of neurodegenerative diseases manifested by a combition of neurological symptoms (most often choreic hyperkinesis) and the presence of an increased number of acanthocytes (erythrocytes with horns) in the peripheral blood. This group includes chorea-acanthocytosis, MacLeod’s syndrome, pantothenate kinase-associated neurodegeneration, Huntington-like disease type 2, and some other very rare diseases. This article presents a genetically confirmed clinical case of chorea-acanthocytosis associated with a compound mutation in the VPS13A gene, discusses in detail the stages of a diagnostic search, presents an algorithm for examining patients with chorea.

Keywords:

neuroacanthocytosis
chorea-acanthocytosis
chorea
mutation VPS13A

Authors:

Skripkina N.A.

Russian Medical Academy of Continuous Professional Education

Datieva V.K.

Russian Medical Academy of Continuous Professional Education

Levin O.S.

Russian Medical Academy of Continuous Professional Education

Received:

10.02.2021

Accepted:

11.02.2021

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References:

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