Huntington’s Disease: Clinical Features and Routes to Therapy

Excerpt

In 1872, physician George Huntington reported a familial form of chorea noted previously on Long Island by his father and grandfather, also physicians. More than a century later his comments about the disease now carrying his name, Huntington’s disease (HD), remain a clear description of its major clinical features (Huntington, 1872; reprinted in Huntington, 2003). Huntington described chorea in general as the “dancing propensities of those … affected,” in whom there “seems to exist some hidden power, something that is playing tricks, as it were, upon the will.” The familial form started “as an ordinary chorea might begin, by the irregular and spasmodic action of certain muscles as of the face, arms, etc. These movements gradually increase when muscles hitherto unaffected take on the spasmodic action….”

The disease, he further noted, “seems to obey certain fixed laws.” It is “confined to … a few families, is attended generally by all the symptoms of common chorea, hardly ever manifesting itself until adult or middle life, and then coming on gradually but surely, increasing by degrees, and often occupying years in its development, until the hapless sufferer is but a quivering wreck of his former self.” The “tendency to insanity,” Huntington observed, progresses so that the “mind becomes more or less impaired, in many amounting to insanity while in others, mind and body both gradually fail until death relieves them of their sufferings.”

The inheritance pattern was also clear to Huntington: “When either or both the parents have shown manifestations … one or more of the offspring almost invariably suffer from the disease … but if by any chance these children go through a life without it, the thread is broken….” Finally, he noted the relentless, fatal course: “I have never known a recovery … it seems at least to be one of the incurables.” Commenting later on Huntington’s description, Sir William Osler noted that “there are few instances in which a disease has been more accurately, more graphically, and more briefly described” (Stevenson, 1934).