"Fatal familial insomnia": neuropsychological study of a disease with thalamic degeneration

Cortex. 1992 Jun;28(2):175-87. doi: 10.1016/s0010-9452(13)80046-9.

Abstract

Fatal Familial Insomnia (FFI) is an inherited disease characterized clinically by sleep, autonomic and motor disturbances and pathologically by marked atrophy of the anterior and dorsomedial nuclei of the thalamus. The neuropsychological study of three cases of FFI showed: (1) a progressive disturbance of attention and vigilance, (2) a memory deficit with lability of mnesic traces and difficulty in manipulation and ordering of events, suggesting an alteration of working memory and (3) a deficit of frontal abilities with impairment in planning and prevision of events but preservation of general intelligence.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Brain Diseases / psychology
  • Female
  • Flicker Fusion
  • Humans
  • Intelligence Tests
  • Male
  • Memory / physiology
  • Middle Aged
  • Nerve Degeneration
  • Psychological Tests
  • Psychomotor Performance
  • Sleep Initiation and Maintenance Disorders / genetics*
  • Sleep Initiation and Maintenance Disorders / pathology
  • Sleep Initiation and Maintenance Disorders / psychology
  • Thalamus*