Juvenile amyotrophic lateral sclerosis: case report
DOI:
https://doi.org/10.34024/rnc.2025.v33.19746Keywords:
Diseases of the Nervous System, Neural Degeneration, Amyotrophic lateral sclerosisAbstract
Introduction. Juvenile amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that affects the upper motor neuron (UMN) and/or the lower motor neuron (LMN) before the age of 25. The clinical development and prognosis of the disease are directly related to the affected gene, with slow progression and an indolent course in most cases. Case Report. This study describes the case of a patient who presented difficulty walking and muscle weakness from the age of four, progressing with slight worsening at the age of 14, and whose diagnosis was confirmed by genetic testing for a mutation in the SETX gene. The objective was to report an uncommon disease, highlighting the characteristic symptoms related to the type of mutation and its progression. Conclusion. Juvenile ALS should be considered as a differential diagnosis, as it implies the need for a multidisciplinary approach to maintain the patient's physical, psychological and social well-being.
Metrics
References
1.Alfahad T, Avindra N. Retroviruses and amyotrophic lateral sclerosis. Antiviral Res 2013;99:180-7. https://doi.org/10.1016/j.antiviral.2013.05.006
2.Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease, and clinical diagnosis of Sporadic Amyotrophic Lateral Sclerosis. Neurol Clin 2015;33:735-48. https://doi.org/10.1016/j.ncl.2015.07.006
3.Fattori B, Grosso M, Bongioanni P, Nacci A, Cristofani R, AlSharif A, et al. Assessment of swallowing by oropharyngoesophageal scintilografy in patients with amyotrophic lateral sclerosis. Dysphasia 2006;21:280-6. https://doi.org/10.1007/s00455-006-9052-5
4.Makkonen T, Ruottinen H, Puhto R, Helminen M, Palmio J. Speech deterioration in Amyotrophic Lateral Sclerosis (ALS) after manifestation of bulbar symptoms. Int J Lang Commun Disord 2018;53:385-92. https://doi.org/10.1111/1460-6984.12357
5.Branco LMT, Zanao T, Rezende TJ, Casseb RF, Balthazar MF, Woolley SC, et al. Transcultural validation of the ALS-CBS Cognitive Section for the Brazilian population. Amyotr Lat Scler Frontotemp Deg 2017;18:60-7. https://doi.org/10.1080/21678421.2016.1211147
6.Albuquerque KMF, Pernambuco L, Lopes LW. Impacto do tratamento medicamentoso na voz, fala e deglutição de pacientes com esclerose lateral amiotrófica: revisão sistemática. Audiol Commun Res 2022;27:1-9. https://doi.org/10.1590/2317-6431-2021-2599
7.Lehky T, Grunseich C. Juvenile Amyotrophic Lateral Sclerosis: A Review. Genes (Basel) 2021;12:1-16. https://doi.org/10.3390/genes12121935
8.Souza PVS. Análise clínica e genética de pacientes com Esclerose Lateral Amiotrófica Juvenil (Dissertation). São Paulo: Universidade Federal de São Paulo; 2022. https://hdl.handle.net/11600/65322
9.Richard P, Feng S, Tsai YL, Li W, Rinchetti P, Muhith U, et al. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation. Autophagy 2021;17:1889-906. https://doi.org/10.1080/15548627.2020.1796292
10.Pansarasa O, Bordoni M, Diamanti L, Sproviero D, Gagliardi S, Cereda C. SOD1 in Amyotrophic Lateral Sclerosis: “Ambivalent” Behavior Connected to the Disease. Int J Mol Sci 2018;19:1345. https://doi.org/10.3390/ijms19051345
11.Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D, et al. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics 2001;71:200-13. https://doi.org/10.1006/geno.2000.6392
12.Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, et al. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun 2021;9:194. https://doi.org/10.1186/s40478-021-01277-5
13.Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010;133:591-8. https://doi.org/10.1093/brain/awp325
14.Bäumer D, Hilton D, Paine SML, Turner MR, Lowe J, Talbot K, et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 2010;75:611-8. https://doi.org/10.1212/WNL.0b013e3181ed9cde
15.Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011;477:211-5. https://doi.org/10.1038/nature10353
16.Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, et al. Association of variants in the SPTLC1 gene with juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol 2021;78:1236-48. https://doi.org/10.1001/jamaneurol.2021.2598
17.Sabatelli M, Marangi G, Conte A, Tasca G, Zollino M, Lattante S. New ALS-related genes expand the spectrum paradigm of Amyotrophic Lateral Sclerosis. Brain Pathol 2016;26:266-75. https://doi.org/10.1111/bpa.12354
18.Souza PVS, Serrano PL, Farias IB, Machado RIL, Badia BML, Oliveira H, et al. Clinical and genetic aspects of juvenile amyotrophic lateral sclerosis: a promising era emerges. Genes 2024;15:311. https://doi.org/10.3390/genes15030311
19.Cappella M, Pradat PF, Querin G, Biferi MG. Beyond the traditional clinical trials for Amyotrophic Lateral Sclerosis and the future impact of gene therapy. J Neuromuscul Dis 2021;8:25-38. https://doi.org/10.3233/JND-200531
20.Kliest T, Van Eijk RPA, Al-Chalabi A, Albanese A, Andersen PM, Amador MDM, et al. Clinical trials in pediatric ALS: a TRICALS feasibility study. Amyotr Lat Scler Frontotemp Degener 2022;23:481-8. https://doi.org/10.1080/21678421.2021.2024856
21.Zhou H, Roberts P, Dhaliwal S, Della P. Transitioning adolescent and young adults with chronic disease and/or disabilities from paediatric to adult care services – an integrative review. J Clin Nursing 2016;25:3113–30. https://doi.org/10.1111/jocn.13326
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Caroline Frucci, Paola Peres Freire, Lucas Porto Ferreira, Ana Clara Rodrigues Santos, Luiza Serafini Balestrassi
This work is licensed under a Creative Commons Attribution 4.0 International License.
