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An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.

Mika HayakawaTomoyasu MatsubaraYoko MochizukiChisen TakeuchiMotoyuki MinamitaniMasayuki ImaiKenjiro KosakiTomio AraiShigeo Murayama
Published in: BMC neurology (2022)
In patients with hereditary spastic paraplegia with SPG11 mutations, a variety of clinical phenotypes develop due to widespread lesions containing p62-immunoreactive neuronal cytoplasmic inclusions. We herein report the lateral geniculate body as another degenerative site related to SPG11-related pathologies that should be studied in future investigations.
Keyphrases
  • case report
  • cerebral palsy
  • botulinum toxin
  • upper limb
  • gene expression
  • copy number
  • dna methylation