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Case Report
Amyotrophic lateral sclerosis autosomal dominant due to a mutation in the TARDBP gene (ALS10)
1 School of Medicine – University Iguaçu – UNIG – Nova Iguaçu, RJ, Brazil
2 Iguaçu University – UNIG; Hospital Geral de Nova Iguaçu, Nova Iguaçu, RJ, Brazil
3 School of Medicine – University Iguaçu – UNIG – Nova Iguaçu, RJ , Brazil
4 PhD, Federal University of Rio de Janeiro – Rio de Janeiro, 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: 101287Z01MO2022
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Orsini M, do Nascimento JF, da Silva Catharino AM, Armada L, Freitas MRG. Amyotrophic lateral sclerosis autosomal dominant due to a mutation in the TARDBP gene (ALS10). Int J Case Rep Images 2022;13:101287Z01MO2022.ABSTRACT
Introduction: The pathophysiology of amyotrophic lateral sclerosis (ALS), for the most part, is of unknown origin. However, it is known that in worldwide parameters, mutations of the superoxide dismutase 1 gene (SOD1) occupy about 20% of the cases of familial ALS, and mutations related to the TARDBP gene are responsible for 1–5% of SOD1-negative familial cases, as well as in some cases of sporadic ALS. Several studies have discussed TARDBP mutations in patients with ALS, or even in cases of frontotemporal dementia. At present, the search remains to clarify whether patients with ALS and with TARDBP mutations have a particular clinical presentation, with frequent or exceptional frontotemporal dementia, and whether, as for SOD1, some mutations may have an influence on the phenotype.
Case Report: We report a case of 48-year-old man, retired police officer, without comorbidities. He had received a diagnosis of Amyotrophic lateral sclerosis in 2019, after a possible picture of multifocal motor neuropathy (NMM) with conduction block (greater than 30% and less than 50%) in the right median nerve between wrist and elbow. After genetic testing, we identified the genetic variant TARDBP with autosomal dominant pattern with or without association with Frontotemporal Dementia. This variant, LAS10, can be considered a mutation of exon 6, c.1147>G (p.ile383Val).
Conclusion: Although there are several clinically significant differences between patients carrying the TARDBP mutation, it is not possible to differentiate between sporadic and familial cases. It is believed that genetic parameters and their study can lead to a better understanding of the mechanisms of ALS degeneration and subsequently individualized therapeutic strategies.
Keywords: Amyotrophic lateral sclerosis, ALS10, Autosomal dominant, TARDBP gene
SUPPORTING INFORMATION
Author Contributions
Marco Orsini - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Jacqueline Fernandes do Nascimento - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Antônio Marcos da Silva Catharino - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Luciana Armada - Acquisition of data, Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Marcos RG Freitas - Analysis of data, Drafting the article, Final approval of the version to be published
Guarantor 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 Jacqueline Fernandes do Nascimento 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.
