Kennedy's disease: clinical presentation and laboratory diagnosis

Clin Exp Neurol. 1993:30:61-5.

Abstract

Kennedy's disease is a form of progressive spinal and bulbar muscular atrophy of adult onset. This paper describes a case of Kennedy's disease and discusses the laboratory diagnosis and the underlying genetic mechanism. Three other neurological diseases, Huntington's disease, myotonic dystrophy and fragile X syndrome, which have similar genetic defects, are also discussed.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Clinical Laboratory Techniques*
  • Electrophoresis, Agar Gel
  • Exons
  • Humans
  • Male
  • Motor Neuron Disease / diagnosis*
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / physiopathology*
  • Mutation
  • Polymerase Chain Reaction
  • Receptors, Androgen / genetics

Substances

  • Receptors, Androgen