Understanding Kennedy’s Disease

Kennedy’s disease is also known as X-linked recessive bulbar and spinal muscular atrophy or X-linked recessive bulbar and spinal neuronopathy. recessive bulbospinal neoronopathy). The Japanese credit Hiroshi Kawahara with first describing this disease in 1897 through two Japanese siblings who also suffered from progressive bulbar palsy. However, it is internationally recognized that it was first discovered in 1964 by William R. Kennedy, who had just completed his neurology residency at the Mayo Clinic for only three months. The patient was a 57-year-old male descendant of a Frenchman and an Indian-American from Minnesota, and the disease was first described in 1979 by the Belgian neurologist Paul Delwaide under the name of the discoverer. In 1986, Fishbeck et al. reported a genetic abnormality in DXYS1 on the proximal long arm of the X chromosome, and in 1991, La Spada confirmed that the disease was a dynamic mutation disease due to a duplicated amplification of exon 1 of the androgen receptor gene, CAG. AAN) listed Kennedy’s work as one of the 15 most influential studies in the Society’s 50-year history.