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Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia

Jaramillo Correa, Jimena; Solano Atehortúa, Juan Marcos; Aristizábal, Alejandra; Martínez Garro, Juliana María.
Biomédica (Bogotá); 42 (4), 2022
Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colo...
Esclerosis Amiotrófica Lateral/genética, Enfermedades Neurodegenerativas, Genes, Mutación
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The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

Novis, Luiz Eduardo; Spitz, Mariana; Teive, Hélio A. G.
Arq. neuropsiquiatr; 79 (8), 2021
ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr....
Esclerosis Amiotrófica Lateral/genética, Atrofia Muscular Espinal/genética, Mutación, Fenotipo, Proteínas de Transporte Vesicular/genética
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Genetic approach in amyotrophic lateral sclerosis

Cervantes-Aragón, Iván; Ramírez-García, Sergio Alberto; Baltazar-Rodríguez, Luz Margarita; García-Cruz, Diana; Castañeda-Cisneros, Gema.
Gac. méd. Méx; 155 (5), 2019
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is...
Edad de Inicio, Esclerosis Amiotrófica Lateral/enzimología, Esclerosis Amiotrófica Lateral/genética, Isquemia/complicaciones, México, Estrés Oxidativo, Mutación Puntual, Superóxido Dismutasa-1/genética
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