Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation.
OBJECTIVE
To report neuropathologic features of argyrophilic inclusions in the anterior horn cells, motor cortex Betz cells, and neurons of the medullary reticular formation, spinal posterior horn, and Clarke column in a Japanese case of familial amyotrophic lateral sclerosis with I113T substitution in exon 4 of the copper-zinc superoxide dismutase (SOD1) gene.


RESULTS
These inclusions were stained pale pink on the hematoxylin-eosin stain and dark on the Bielschowsky stain. They were positive for antibodies to phosphorylated neurofilaments, ubiquitin, and SOD1. On electron microscopy, they consisted of abundant intermediate filaments of 10 to 20 nm in diameter with disordered array indicating neurofilaments.


CONCLUSIONS
These findings suggest that the I113T mutation induces accumulation of neurofilaments and SOD1 in the central nervous system neurons.
Kokubo
Y
Y
Department of Neurology, Mie University School of Medicine, Tsu, Japan. kuzuhara@clin.medic.mie-u.ac.jp
Kuzuhara
S
S
Narita
Y
Y
Kikugawa
K
K
Nakano
R
R
Inuzuka
T
T
Tsuji
S
S
Watanabe
M
M
Miyazaki
T
T
Murayama
S
S
Ihara
Y
Y
D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D006801:Humans; D002479:Inclusion Bodies / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009046:Motor Neurons / Q000737:chemistry / Q000201:enzymology / Q000473:pathology; D009410:Nerve Degeneration / Q000201:enzymology / Q000473:pathology; D016900:Neurofilament Proteins / Q000032:analysis*; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000032:analysis / Q000235:genetics*
D016900:Neurofilament Proteins; D013482:Superoxide Dismutase