Familial amyotrophic lateral sclerosis with widespread vacuolation and hyaline inclusions.
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.
Sasaki
S
S
Department of Neurology, Tokyo Women's Medical College, Japan.
Ohsawa
Y
Y
Yamane
K
K
Sakuma
H
H
Shibata
N
N
Nakano
R
R
Kikugawa
K
K
Mizutani
T
T
Tsuji
S
S
Iwata
M
M
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
D016900:Neurofilament Proteins; C000606290:SOD1 protein, human; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1