X-linked bulbar and spinal muscular atrophy was comprehensively described by William R. Kennedy, and later the syndrome carried his name. It was the first triplet-repeat disease to be discovered. Recent transgenic experiments have shed some light on the underlying pathogenesis. This article considers the historical background of these discoveries and focuses on direct quotations of seminal contributions.
The historical record of X-linked bulbar and spinal muscular atrophy parallels technological advancement in neurology, especially the electrophysiological and molecular biological discoveries, which followed the original clinical descriptions. The earliest written reports of an X-linked bulbar and spinal muscular atrophy are likely from Kurland.1 He mentioned 2 Japanese kindreds, the patients of Drs U. Murakami and S. Hibino (Department of Internal Medicine, University of Nagoya, Japan), with an “atypical form of motor neuron disease.”
Sinnreich M, Klein CJ. Bulbospinal Muscular Atrophy: Kennedy’s Disease. Arch Neurol. 2004;61(8):1324–1326. doi:10.1001/archneur.61.8.1324
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