title: Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of SOD1 mutation.
abstract: 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. She died 14 months after the onset of neurological symptoms. Autopsy showed characteristic features of ALS but also with posterior column degeneration and conglomerate hyaline inclusions. 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.
authors.affiliation: Department of Pathology (Neuropathology), Columbia University Medical Center, PH15th Stem, Room 124, 630 West 168th Street, New York, NY 10032, USA. aph1@columbia.edu
authors.forename: Arthur P
authors.initials: AP
authors.lastname: Hays
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Cui Zhen
authors.initials: CZ
authors.lastname: He
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsumoto
authors.forename: Lewis P
authors.initials: LP
authors.lastname: Rowland
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics*; D001943:Breast Neoplasms / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007150:Immunohistochemistry / Q000379:methods; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D007532:Isoleucine / Q000235:genetics; D009410:Nerve Degeneration / Q000209:etiology / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013912:Threonine / Q000235:genetics
chemical_list: C000606290:SOD1 protein, human; D007532:Isoleucine; D013912:Threonine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1