Annals of Neurology · 1996 · 239 citations · 14 references
Life SciencesGeneticsNeuroscienceMolecular NeuroscienceNeurodegenerationNeurogeneticsAmyotrophic Lateral SclerosisMolecular NeurogeneticsMotor Neuron DiseasesMotor Neuron DisordersNeurodegenerative DiseasesNeurodegenerative DisordersAmyotrophic Lateral Sclerosis PathologyMutationNeurodegeneration PathogenesisNeurodegenerative Disease MechanismsNeurofilament PathologySod1 PathologySuperoxide Dismutase 1Transgenic Mouse Models
Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament subunits in transgenic mouse models of ALS also suggests a key role for these proteins in the pathogenesis of the disease. We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. These observations suggest that two mechanisms, SOD1-induced toxicity and neurofilament disruption, are acting together.
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Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation
Mark E. Gurney, Haifeng Pu, Arlene Y. Chiu et al. · Science · 1994 · 4.1K citations