title: Familial amyotrophic lateral sclerosis with widespread vacuolation and hyaline inclusions.
abstract: This report presents a familial amyotrophic lateral sclerosis (FALS) patient with widespread vacuoles and hyaline inclusions strongly immunostained with the anti-superoxide dismutase (SOD1) antibody. The overall pathologic similarity between our non-SOD1-linked FALS patient and transgenic mice expressing a mutated human SOD1 gene suggests that common pathogenetic mechanisms other than an SOD1 mutation exist in the development of these diseases.
authors.affiliation: Department of Neurology, Tokyo Women's Medical College, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Ohsawa
authors.forename: K
authors.initials: K
authors.lastname: Yamane
authors.forename: H
authors.initials: H
authors.lastname: Sakuma
authors.forename: N
authors.initials: N
authors.lastname: Shibata
authors.forename: R
authors.initials: R
authors.lastname: Nakano
authors.forename: K
authors.initials: K
authors.lastname: Kikugawa
authors.forename: T
authors.initials: T
authors.lastname: Mizutani
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Iwata
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D016900:Neurofilament Proteins / Q000378:metabolism; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology / Q000648:ultrastructure; D013482:Superoxide Dismutase / Q000235:genetics / Q000378:metabolism; D000072105:Superoxide Dismutase-1
chemical_list: D016900:Neurofilament Proteins; C000606290:SOD1 protein, human; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1