[A Japanese family with probably autosomal dominant adult-onset leukodystrophy]

Rinsho Shinkeigaku. 1996 Aug;36(8):968-72.
[Article in Japanese]

Abstract

We report here a family with leukodystrophy clinical features of which are characterized as adult onset, probably autosomal dominant inheritance, hyperreflexia, cerebellar ataxia, autonomic dysfunction and no peripheral nerve involvement. T2-weighted brain MRI revealed diffuse high signal areas in the cerebral white matter. The disorder in our subjects can be distinguished from most leukodystrophies in terms of genetic inheritance, clinical manifestations and laboratory data. Our family is quite similar to the kindred which Eldridge et al. described in 1984 as "hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis". Our family is the third report of this type of leukodystrophy and the first among non-Irish/Scottish family.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Age of Onset
  • Autonomic Nervous System Diseases / complications*
  • Diffuse Cerebral Sclerosis of Schilder / complications
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Family Health
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Middle Aged
  • Pedigree