Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges
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 <i>loci</i> have been associated with both s...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/3/311 |
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| author | 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 Acary Souza Bulle Oliveira |
| author_facet | 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 Acary Souza Bulle Oliveira |
| author_sort | Paulo Victor Sgobbi de Souza |
| collection | DOAJ |
| description | 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 <i>loci</i> 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 <i>FUS</i> 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. |
| first_indexed | 2024-04-24T18:14:44Z |
| format | Article |
| id | doaj.art-717ff13f5d304ab491a64fc16f06c3d4 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-04-24T18:14:44Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-717ff13f5d304ab491a64fc16f06c3d42024-03-27T13:43:02ZengMDPI AGGenes2073-44252024-02-0115331110.3390/genes15030311Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era EmergesPaulo Victor Sgobbi de Souza0Paulo de Lima Serrano1Igor Braga Farias2Roberta Ismael Lacerda Machado3Bruno de Mattos Lombardi Badia4Hélvia Bertoldo de Oliveira5Alana Strucker Barbosa6Camila Alves Pereira7Vanessa de Freitas Moreira8Marco Antônio Troccoli Chieia9Adriel Rêgo Barbosa10Vinícius Lopes Braga11Wladimir Bocca Vieira de Rezende Pinto12Acary Souza Bulle Oliveira13Motor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilMotor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, BrazilJuvenile 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 <i>loci</i> 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 <i>FUS</i> 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.https://www.mdpi.com/2073-4425/15/3/311Motor Neuron DiseaseAmyotrophic Lateral Sclerosisneuromuscular diseasesjuvenile Amyotrophic Lateral Sclerosisneurodegenerative diseases |
| spellingShingle | 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 Acary Souza Bulle Oliveira Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges Genes Motor Neuron Disease Amyotrophic Lateral Sclerosis neuromuscular diseases juvenile Amyotrophic Lateral Sclerosis neurodegenerative diseases |
| title | Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges |
| title_full | Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges |
| title_fullStr | Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges |
| title_full_unstemmed | Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges |
| title_short | Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges |
| title_sort | clinical and genetic aspects of juvenile amyotrophic lateral sclerosis a promising era emerges |
| topic | Motor Neuron Disease Amyotrophic Lateral Sclerosis neuromuscular diseases juvenile Amyotrophic Lateral Sclerosis neurodegenerative diseases |
| url | https://www.mdpi.com/2073-4425/15/3/311 |
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