The paradigm of Huntington disease

Am J Hum Genet. 1989 Jul;45(1):169-75.

Abstract

I recall it as vividly as though it had occurred but yesterday. It made a most enduring impression upon my boyish mind which was my very first impulse to choosing chorea as my virgin contribution to medical lore. Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women, mother and daughter, both tall and thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment, almost in fear. What could it mean? My father paused to speak with them and we passed on. Then my Gamaliel-like instruction began; my medical education had its inception. From this point on, my interest in the disease has never wholly ceased. [George Huntington, at 59, recalling how at the age of 8 years he first saw Huntington disease while traveling with his physician father on his professional rounds in 1858].

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Education, Medical
  • Ethics, Medical
  • Female
  • Genetics, Medical*
  • Humans
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics*
  • Male
  • Pedigree
  • Videotape Recording