Genes, Vol. 15, Pages 311: Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges

Genes, Vol. 15, Pages 311: Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges Genes doi: 10.3390/genes15030311 Authors: 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 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 ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research