A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy.
L126S mutation
amyotrophic lateral sclerosis
inferior olivary hypertrophy
neuronal intracytoplasmic inclusion
superoxide dismutase 1
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
17
08
2019
revised:
13
10
2019
accepted:
13
10
2019
pubmed:
22
12
2019
medline:
20
1
2021
entrez:
22
12
2019
Statut:
ppublish
Résumé
We report an autopsy case of amyotrophic lateral sclerosis with L126S mutation in the superoxide dismutase 1 (SOD1) gene (SOD1). The patient was a 69-year-old Japanese man without relevant family history, who initially presented with slow progressive muscle weakness of the lower extremities without upper motor neuron signs, and died of respiratory failure 6 years after the onset. Neuropathological examination revealed a loss of lower motor neurons and degeneration of Clarke's column commensurate with that of the posterior spinocerebellar tract and the middle root zone of the posterior column. The primary motor area was minimally affected. Characteristic SOD1-immunopositive neuronal intracytoplasmic inclusions, mixed with neurofilament accumulation, were present in the affected areas. Isolated inferior olivary hypertrophy was observed, but did not involve the contralateral dentate nucleus, or the ipsilateral red nucleus and central tegmental tract, where no neuronal inclusions were found. In combination with data from a previous autopsy case, this study suggests that the L126S mutation may cause focal neuronal degeneration in the brainstem.
Substances chimiques
SOD1 protein, human
0
Superoxide Dismutase-1
EC 1.15.1.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
191-195Subventions
Organisme : Japan Society for the Promotion of Science Grants in Aid for Scientific Research (KAKENHI)
ID : 16K09690
Organisme : Japan Society for the Promotion of Science Grants in Aid for Scientific Research (KAKENHI)
ID : 18H02718
Informations de copyright
© 2019 Japanese Society of Neuropathology.
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