George Huntington (1850-1916) and hereditary chorea

Abstract

Although Huntington's disease has existed since at least the seventeenth century, and although several physicians provided earlier descriptions of hereditary chorea, Huntington's disease was not generally recognized until the classic description by George Huntington (1850-1916) in 1872. This paper--on the sesquicentennial of Huntington's birth--reviews Huntington's original and later contributions to the description of this disorder, his professional presentations and correspondence on the topic, and his publications, as well as his background, medical training, and clinical practice. The characteristics of Huntington's disease recognized by George Huntington in 1872--i.e., the distinct clinical profile, midlife onset, and autosomal dominant inheritance pattern--made the disease ideal for investigation by genetic linkage analysis a century after Huntington's description. Subsequent breakthroughs have identified the genetic defect as an unstable expanded CAG trinucleotide repeat mutation in a novel gene on the short arm of chromosome 4. The rapidity of recent discoveries bodes well for further significant progress in understanding, and hopefully treating, this profoundly debilitating neurodegenerative disorder.