Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids

J Neurol Sci. 1997 Apr 15;147(2):185-91. doi: 10.1016/s0022-510x(96)05346-4.

Abstract

We describe a family with an autosomal dominant neurodegenerative disorder, three siblings of which were verified by autopsy as having sudanophilic leukodystrophy (SLD). The clinical picture of the family is one of progressive dementia and spastic paralysis. Pathological examinations detected diffuse and patchy white matter lesions and the widespread presence of axonal spheroids in the lesions of all three autopsy patients. Because change was found selectively in the pyramidal tracts and optic radiations, this disease is considered to affect the long tracts systematically. The SLD in the family we studied is distinguished from other leukodystrophies by its clinical and pathological features, indicative that it may be a special type of SLD.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Axons / pathology
  • Axons / ultrastructure
  • Diffuse Cerebral Sclerosis of Schilder / classification
  • Diffuse Cerebral Sclerosis of Schilder / genetics
  • Diffuse Cerebral Sclerosis of Schilder / pathology*
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Male
  • Microscopy, Electron
  • Nerve Degeneration*
  • Pedigree