Murine experimental models of amyotrophic lateral sclerosis: An update

IntroductionAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease whose aetiology is unknown. It is characterised by upper and lower motor neuron degeneration. Approximately 90% of cases of ALS are sporadic, whereas the other 10% are familial. Regardless of whether the case...

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Detalhes bibliográficos
Autor: Aguilar Lepe, Juan de los Reyes
Formato: artículo
Fecha de publicación:2024
País:España
Recursos:Universidad de Castilla-La Mancha
Repositorio:RUIdeRA. Repositorio Institucional de la UCLM
OAI Identifier:oai:ruidera.uclm.es:10578/42338
Acesso em linha:http://10.1016/j.nrl.2021.07.007
https://hdl.handle.net/10578/42338
Access Level:acceso abierto
Palavra-chave:C9ORF72
Esclerosis lateral amiotrófica
FUS
Líquido cefalorraquídeo
SOD1
TDP43
Descrição
Resumo:IntroductionAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease whose aetiology is unknown. It is characterised by upper and lower motor neuron degeneration. Approximately 90% of cases of ALS are sporadic, whereas the other 10% are familial. Regardless of whether the case is familial or sporadic, patients will develop progressive weakness, muscle atrophy with spasticity, and muscle contractures. Life expectancy of these patients is generally 2–5 years after diagnosis.DevelopmentIn vivo models have helped to clarify the aetiology and pathogenesis of ALS, as well as the mechanisms of the disease. However, as these mechanisms are not yet fully understood, experimental models are essential to the continued study of the pathogenesis of ALS, as well as in the search for possible therapeutic targets. Although 90% of cases are sporadic, most of the models used to study ALS pathogenesis are based on genetic mutations associated with the familial form of the disease; the pathogenesis of sporadic ALS remains unknown. Therefore, it would be critical to establish models based on the sporadic form.ConclusionThis article reviews the main genetic and sporadic experimental models used in the study of this disease, focusing on those that have been developed using rodents.