Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult

Clin Neuropathol. 1993 May-Jun;12(3):147-52.

Abstract

A 30-year-old woman suffered from a progressive extrapyramidal syndrome, myoclonic jerks, spasticity, and organic brain syndrome; she was clinically suspected to suffer from Creutzfeldt-Jakob disease and died after 4 years of illness. At autopsy, widespread dystrophic axons and Lewy bodies (LBs) were found in her brain. Neuronal loss and diffuse reactive astrogliosis involved the gray matter including the cerebral cortex. Dystrophic axons occurred throughout the nervous system except for the cerebellar cortex and peripheral nerves. LBs involved the cerebral cortex as well as subcortical regions including amygdala and claustrum, brainstem including substantia nigra and locus coeruleus, and spinal cord. LBs were distributed extensively enough to be compatible with diffuse Lewy body disease (DLBD). Ubiquitin immunostaining labeled both dystrophic axons and LBs. The combination of neuroaxonal dystrophy and DLBD may result from cytoskeletal pathology which affects both neuronal cell bodies and axons with subsequent deficient proteolysis and ubiquitination.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Axons / pathology*
  • Brain / pathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Lewy Bodies / ultrastructure
  • Nerve Degeneration / physiology*
  • Neurofilament Proteins / analysis
  • Pantothenate Kinase-Associated Neurodegeneration / pathology*
  • Parkinson Disease / pathology*
  • Ubiquitins / analysis

Substances

  • Neurofilament Proteins
  • Ubiquitins