Journal of the neurological sciences
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Autopsy of patients with sporadic amyotrophic lateral sclerosis (ALS) rarely provides clues to a genetic etiology. We studied a 66-year-old woman who developed progressive weakness, fasciculations and upper motor neuron signs 1 year after mastectomy and chemotherapy for a breast carcinoma. ⋯ These features suggested a mutation of SOD1 mutation although no other family members were affected. DNA analysis of autopsy tissue indicated an I113T SOD1 mutation.