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Pervushina E.V.

Bashkir state medical university

Kutlubaev M.A.

Bashkir State Medical University

Saifullina E.V.

Bashkir State Medical University

Gaisina E.V.

Republican Medical and Genetic Center

Smakova L.A.

Institute of Biochemistry and Genetics of Ufa Federal Scientific Center

Khidiyatova I.M.

Institute of Biochemistry and Genetics of Ufa Federal Scientific Center;
Ufa University of Science and Technology;
Saint-Petersburg State University

Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene

Authors:

Pervushina E.V., Kutlubaev M.A., Saifullina E.V., Gaisina E.V., Smakova L.A., Khidiyatova I.M.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(7): 165‑168

DOI: 10.17116/jnevro2024124071165

Read: 1013 times

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Table of contents

AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH A NEW PATHOGENIC VARIANT OF THE ERBB4 GENE
AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH A NEW PATHOGENIC VARIANT OF THE ERBB4 GENE

To cite this article:

Pervushina EV, Kutlubaev MA, Saifullina EV, Gaisina EV, Smakova LA, Khidiyatova IM. Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(7):165‑168. (In Russ.)
https://doi.org/10.17116/jnevro2024124071165

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10—15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.

Keywords:

amyotrophic lateral sclerosis
motor neuron disease
monogenic disorders
ERBB4

Authors:

Pervushina E.V.

Bashkir state medical university

Kutlubaev M.A.

Bashkir State Medical University

Saifullina E.V.

Bashkir State Medical University

Gaisina E.V.

Republican Medical and Genetic Center

Smakova L.A.

Institute of Biochemistry and Genetics of Ufa Federal Scientific Center

Khidiyatova I.M.

Institute of Biochemistry and Genetics of Ufa Federal Scientific Center;
Ufa University of Science and Technology;
Saint-Petersburg State University

Received:

08.12.2023

Accepted:

12.04.2024

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References:

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