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Review

Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges

by
Paulo Victor Sgobbi de Souza
*,
Paulo de Lima Serrano
,
Igor Braga Farias
,
Roberta Ismael Lacerda Machado
,
Bruno de Mattos Lombardi Badia
,
Hélvia Bertoldo de Oliveira
,
Alana Strucker Barbosa
,
Camila Alves Pereira
,
Vanessa de Freitas Moreira
,
Marco Antônio Troccoli Chieia
,
Adriel Rêgo Barbosa
,
Vinícius Lopes Braga
,
Wladimir Bocca Vieira de Rezende Pinto
and
Acary Souza Bulle Oliveira
Motor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, Brazil
*
Author to whom correspondence should be addressed.
Genes 2024, 15(3), 311; https://doi.org/10.3390/genes15030311
Submission received: 6 February 2024 / Revised: 22 February 2024 / Accepted: 27 February 2024 / Published: 28 February 2024
(This article belongs to the Special Issue Research Strategies to Unveil the Genetic and Molecular Basis of ALS)
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Abstract

Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.
Keywords: Motor Neuron Disease; Amyotrophic Lateral Sclerosis; neuromuscular diseases; juvenile Amyotrophic Lateral Sclerosis; neurodegenerative diseases Motor Neuron Disease; Amyotrophic Lateral Sclerosis; neuromuscular diseases; juvenile Amyotrophic Lateral Sclerosis; neurodegenerative diseases

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MDPI and ACS Style

Souza, P.V.S.d.; Serrano, P.d.L.; Farias, I.B.; Machado, R.I.L.; Badia, B.d.M.L.; Oliveira, H.B.d.; Barbosa, A.S.; Pereira, C.A.; Moreira, V.d.F.; Chieia, M.A.T.; 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

AMA Style

Souza PVSd, Serrano PdL, Farias IB, Machado RIL, Badia BdML, Oliveira HBd, Barbosa AS, Pereira CA, Moreira VdF, Chieia MAT, et al. Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges. Genes. 2024; 15(3):311. https://doi.org/10.3390/genes15030311

Chicago/Turabian Style

Souza, Paulo Victor Sgobbi de, Paulo de Lima Serrano, Igor Braga Farias, Roberta Ismael Lacerda Machado, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, and et al. 2024. "Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges" Genes 15, no. 3: 311. https://doi.org/10.3390/genes15030311

APA Style

Souza, P. V. S. d., Serrano, P. d. L., Farias, I. B., Machado, R. I. L., Badia, B. d. M. L., Oliveira, H. B. d., Barbosa, A. S., Pereira, C. A., Moreira, V. d. F., Chieia, M. A. T., Barbosa, A. R., Braga, V. L., Pinto, W. B. V. d. R., & Oliveira, A. S. B. (2024). Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges. Genes, 15(3), 311. https://doi.org/10.3390/genes15030311

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