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: Paulo Victor Sgobbi de Souza Paulo de Lima Serrano Igor Braga Farias Roberta Ismael Lacerda Machado Bruno de Mattos Lombardi Badia H élvia Bertoldo de Oliveira Alana Strucker Barbosa Camila Alves Pereira Vanessa de Freitas Moreira Marco Ant ônio Troccol Tags: Review Source Type: research