TY - CHAP M1 - Book, Section TI - Chapter 32. Genetics and Molecular Biology of Huntington's Disease A1 - Gusella, James F. A1 - Macdonald, Marcy E. A1 - Wheeler, Vanessa C. A2 - Watts, Ray L. A2 - Standaert, David G. A2 - Obeso, Jose A. PY - 2012 T2 - Movement Disorders, 3e AB - In 1872, George Huntington described a unique ailment involving characteristic involuntary movements that begin insidiously, usually in middle age, and progress gradually until the victim is consumed by full-blown chorea.1 His description was based on his observations of families with the disorder in his clinical practice as a family physician in East Hampton, on Long Island, New York. As members of the same families had been cared for by his father and grandfather, who were also physicians, Huntington was attuned to the inherited nature of the peculiar disorder. He described frequent transmission of the defect from either an affected mother or an affected father to offspring, with no skipping of generations. Huntington also noted that “if by any chance these children go through life without it, the thread is broken and the children and great grandchildren of the original shakers may rest assured that they are free from the disease.” This pattern of transmission was recognized as the result of a mendelian autosomal-dominant defect by Osler in 1908.2 Indeed, Vessie3 later traced many of the Long Island families to immigrants from Bures, England, who landed in New England in 1649, confirming Huntington's description of this hereditary chorea as “an heirloom from generations away back in the dim past.” George Huntington's accurate, lucid, and succinct description of this nightmarish affliction led to its appellation of Huntington's chorea, subsequently changed to Huntington's disease (HD), as its manifestations are not limited to loss of motor control. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/11/11 UR - neurology.mhmedical.com/content.aspx?aid=55800287 ER -