Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy.
TDP-43
adult-onset
myopathic change
p62
spinal muscular atrophy
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:
Oct 2023
Oct 2023
Historique:
revised:
12
02
2023
received:
16
01
2023
accepted:
17
02
2023
medline:
23
10
2023
pubmed:
4
3
2023
entrez:
3
3
2023
Statut:
ppublish
Résumé
Spinal muscular atrophy (SMA), an autosomal-recessive lower motor neuron disease, causes progressive proximal muscle waste and weakness. It remains unclear whether myopathic changes are involved in pathogenesis. We encountered a patient with adult-onset SMA caused by a homozygous deletion in exon 7 of the survival motor neuron 1 (SMN1) gene who had had four copies of SMN2 exon 7. Muscle biopsy showed neurogenic features of groups of atrophic fibers, fiber-type grouping, and pyknotic nuclear clumps associated with fibers with rimmed vacuoles. Immunohistochemistry revealed sarcoplasmic aggregates of phosphorylated TDP-43 and p62 but not SMN. This study demonstrated myopathic changes with the accumulation of phosphorylated p62 and TDP-43 in the muscles of a patient with SMA, suggesting that abnormal protein aggregation may be involved in myopathic pathology.
Substances chimiques
Protein Aggregates
0
DNA-Binding Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
408-412Subventions
Organisme : Japan Society for the Promotion of Science
Organisme : Ministry of Health, Labour and Welfare
Informations de copyright
© 2023 Japanese Society of Neuropathology.
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