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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

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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 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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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

List of references:

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  2. Chiò A, Battistini S, Calvo A, et al. Genetic counselling in ALS: facts, uncertainties and clinical suggestions. J Neurol Neurosurg Psychiatry. 2014;85(5):478-485.  https://doi.org/10.1136/jnnp-2013-305546
  3. Takahashi Y, Fukuda Y, Yoshimura J, et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. 2013;93(5):900-905.  https://doi.org/10.1016/j.ajhg.2013.09.008
  4. Kataria H, Alizadeh A, Karimi-Abdolrezaee S. Neuregulin-1/ErbB network: An emerging modulator of nervous system injury and repair. Prog Neurobiol. 2019;180:101643. https://doi.org/10.1016/j.pneurobio.2019.101643
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  6. Takahashi Y, Uchino A, Shioya A, et al. Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS. Neuropathology. 2019;39(4):268-278.  https://doi.org/10.1111/neup.12558
  7. Ilieva H, Vullaganti M, Kwan J. Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis. BMJ. 2023;383:e075037. https://doi.org/10.1136/bmj-2023-075037
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  9. Yilmaz R, Weishaupt K, Valkadinov I, et al. Quadruple genetic variants in a sporadic ALS patient. Mol Genet Genomic Med. 2022;10(7):e1953. https://doi.org/10.1002/mgg3.1953
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  11. Borg R, Farrugia Wismayer M, Bonavia K. Genetic analysis of ALS cases in the isolated island population of Malta. Eur J Hum Genet. 2021;29(4):604-614.  https://doi.org/10.1038/s41431-020-00767-9
  12. Wang F, Liu X, He J, et al. Analysis of ERBB4 Variants in Amyotrophic Lateral Sclerosis Within a Chinese Cohort. Front Neurol. 2022;13:865264. https://doi.org/10.3389/fneur.2022.865264
  13. Al Khleifat A, Iacoangeli A, van Vugt JJFA. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ Genom Med. 2022;7(1):8.  https://doi.org/10.1038/s41525-021-00267-9
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