A unique autosomal dominant disorder with indifference to pain: clinicopathologic correlation of indifference to pain and thalamic gliosis

Eur Neurol. 1998 Oct;40(3):141-5. doi: 10.1159/000007970.

Abstract

We present updated information on a previously reported kindred with an autosomal dominant disorder variably expressed as indifference to pain, dementia, and ataxia. Additional clinical and radiological information is presented, as are autopsy results form the index case. In addition to evidence of Alzheimer's disease, the autopsy revealed bilateral thalamic gliosis, which may be a neuroanatomic substrate for the indifference to pain seen in this patient. To our knowledge, this is the first reported association of thalamic gliosis and indifference to pain.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alzheimer Disease / complications
  • Alzheimer Disease / diagnosis
  • Brain Diseases / pathology
  • Female
  • Gliosis / complications
  • Gliosis / pathology*
  • Humans
  • Male
  • Middle Aged
  • Pain Insensitivity, Congenital / complications
  • Pain Insensitivity, Congenital / diagnosis
  • Pain Insensitivity, Congenital / genetics*
  • Pain Measurement
  • Pedigree
  • Thalamus / pathology*