α-Synuclein coaggregation in familial amyotrophic lateral sclerosis with SOD1 gene mutation.
Immunohistochemical studies were performed on postmortem brain and spinal cord from a patient with familial amyotrophic lateral sclerosis characterized by a C111Y mutation in the Cu/Zn superoxide dismutase gene. Clinically, the patient presented with classical amyotrophic lateral sclerosis and died of respiratory failure at age 53 years without ventilator dependence, 4 years after the onset. Pathologically, loss of motor neurons was more extensive than upper motor neurons. Lower motor neurons developed massive intracellular cytoplasmic neuronal inclusions, which were immunoreactive for Cu/Zn superoxide dismutase and phosphorylated α-synuclein, often colocalized. The inclusions were TAR DNA-binding protein 43 negative. The clinicopathologic significance of coaggregation of α-synuclein and Cu/Zn superoxide dismutase protein, a novel finding in neurodegenerative disorders, needs further investigation.
Department of Neurology, Matsumoto Medical Center, Chushin-Matsumoto Hospital, Kotobuski 811, Matsumoto, 399-0021 Japan.
Yo-ichi
Y
Takei
Kenya
K
Oguchi
Hiroshi
H
Koshihara
Akiyo
A
Hineno
Akinori
A
Nakamura
Shinji
S
Ohara
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D051844:alpha-Synuclein / Q000378:metabolism*
C000606290:SOD1 protein, human; D051844:alpha-Synuclein; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1