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Amyotrophic Lateral Sclerosis (ALS): An Overview of Genetic and Metabolic Signaling Mechanisms.

José Augusto Nogueira-MachadoFrancisco das Chagas Lima E SilvaFabiana Rocha E SilvaNathalia Gomes
Published in: CNS & neurological disorders drug targets (2024)
Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and incurable disease. Sporadic (sALS) accounts for ninety percent of ALS cases, while familial ALS (fALS) accounts for around fifteen percent. Reports have identified over 30 different forms of familial ALS. Multiple types of fALS exhibit comparable symptoms with mutations in different genes and possibly with different predominant metabolic signals. Clinical diagnosis takes into account patient history but not genetic mutations, misfolded proteins, or metabolic signaling. As research on genetics and metabolic pathways advances, it is expected that the intricate complexity of ALS will compound further. Clinicians discuss whether a gene's presence is a cause of the disease or just an association or consequence. They believe that a mutant gene alone is insufficient to diagnose ALS. ALS, often perceived as a single disease, appears to be a complex collection of diseases with similar symptoms. This review highlights gene mutations, metabolic pathways, and muscle-neuron interactions.
Keyphrases
  • amyotrophic lateral sclerosis
  • genome wide
  • copy number
  • multiple sclerosis
  • palliative care
  • mental health
  • dna methylation
  • depressive symptoms
  • gene expression
  • case report
  • adverse drug