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Case Report
Characterization of a case of chromosome 21 SOD1 mutation in a patient with familial amyotrophic lateral sclerosis: Discussion on the topic
1 University of the State of Rio de Janeiro and University of Vassouras, Vassouras - RJ, Brazil
2 Minter in Neurology - Master’s Program at the University of the State of Rio de Janeiro and University of Vasouras - UV, and School of Medicine - University Iguaçu, Nova Iguaçu - RJ, Brazil
3 Minter in Neurology - Master’s Program at the University of the State of Rio de Janeiro and University of Vasouras - UV and Federal University of the State of Rio de Janeiro - UNIRIO-RJ, Rio de Janeiro - RJ, Brazil
4 Department of Neurology of Hospital Geral de Nova Iguaçu, PhD Student in Neurology at the Federal University of the State of Rio de Janeiro - UNIRIO, Adjunct Professor of Medicine Iguaçu University - UNIG/Nova Iguaçu - RJ, Brazil
Address correspondence to:
Antônio Marcos da Silva Catharino
Rua Gavião Peixoto 70, Room 811, CEP 24.2230-100, Icaraí, Niterói - RJ,
Brazil
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Article ID: 101329Z01TC2022
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Celento TD, Orsini M, Alvarenga RMP, da Silva Catharino AM. Characterization of a case of chromosome 21 SOD1 mutation in a patient with familial amyotrophic lateral sclerosis: Discussion on the topic. Int J Case Rep Images 2022;13(2):66–70.ABSTRACT
Introduction: Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, Charcot’s disease, and motor neuron disease (MPD), is a progressive, neurodegenerative, and relapsing disease that affects the neurons of the anterior horn of the spinal cord and lateral funiculus. Although the gene defect and pathogenesis of familial ALS is still poorly elucidated, genetic studies point to the involvement of chromosome 21 linkage mutations in the superoxide dismutase 1 (SOD1) gene in approximately 20% of familial ALS cases.
Case Report: We report the case of a 52-year-old woman, with no comorbidities. She had been diagnosed with ALS about eight years ago. She began with episodes of paresis in the right lower limb and melting of the right foot. Fasciculations and unmotivated cramps in the right calf complemented the clinical picture. The right side of the body was initially impaired, with later dissemination of paresis and amyotrophy of the trunk and left side. After a genetic test, the SOD1 genetic variant was identified. The exome analysis corroborated the diagnosis of ALS.
Conclusion: Superoxide dismutase 1 in the context of ALS represents only a fraction of the cases; however, as several neurodegenerative conditions are caused by abnormal protein folding, the study of a protein disorder with incorrect folding confers elucidation on the molecular basis of other diseases. This is important in terms of management and conduct, since the approach based on this hypothesis may favor the design of drugs that stabilize the SOD1 dimer and prevent misfolding.
Keywords: Amyotrophic lateral sclerosis, ALS10, Autosomal dominant, SOD1 protein
SUPPORTING INFORMATION
Author Contributions
Thaiana Duarte Celento - Substantial contributions to conception and design, Acquisition of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Marco Orsini - Substantial contributions to conception and design, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Regina Maria Papais Alvarenga - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Antônio Marcos da Silva Catharino - Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Thaiana Duarte Celento et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
