Myopathic changes caused by protein aggregates in adult‐onset spinal muscular atrophy

DOI Web Site Web Site 10 References
  • Satoshi Yamashita
    Department of Neurology, Graduate School of Medical Sciences Kumamoto University Kumamoto Japan
  • Akihito Nagatoshi
    Department of Neurology, Graduate School of Medical Sciences Kumamoto University Kumamoto Japan
  • Yosuke Takeuchi
    Department of Neurology, Graduate School of Medical Sciences Kumamoto University Kumamoto Japan
  • Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Kodaira Japan
  • Mitsuharu Ueda
    Department of Neurology, Graduate School of Medical Sciences Kumamoto University Kumamoto Japan

Search this article

Description

<jats:p>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 <jats:italic>survival motor neuron 1</jats:italic> (<jats:italic>SMN1</jats:italic>) gene who had had four copies of <jats:italic>SMN2</jats:italic> 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.</jats:p>

Journal

References(10)*help

See more

Related Projects

See more

Details 詳細情報について

Report a problem

Back to top