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Amyotrophic lateral sclerosis
Missense Point Mutation - Toxic gain Function

Amyotrophic lateral sclerosis

  • Genotype

    SOD1-G93A

  • Mechanism

    Missense Point Mutation - Toxic gain Function

  • Phenotype

    Reduced Locomotion, Dyspnea, Constricted GI, Dysphagia

  • Biomarker

    NfL, CRP

  • Gene Expression Markers

    H19, Myhas, and Neat1

  • Physiology Changes

    Muscle paralysis, Hypermetabolism

  • Histology Grading Endpoint

    Loss of motor neurons and Demyelination

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