Huntington's Family Link Discovered Early

by Laura Bruni

Transcribed from the Dimensions Section of the Park Forest Star, March 14, 1996, with permission from the author.

• George Huntington, a young physician, first described the disease in a paper in 1872. Originally named Huntington's Chorea, it is categorized neurologically as a movement disorder. Huntington originally described it as follows: "It is spoken of by those in whose veins the seeds of the disease are know to exist, with a kind of horror, and not at all alluded to except through dire necessity." Huntington's father and grandfather also studied the effects of the disease, allowing Huntington a generational perspective.

• Some researchers have traced Huntington's back along family lines to the infamous witch trials in 17th century America - in Salem and elsewhere. They have speculated that choreic women, afflicted by spastic movements and uncontrollable mental disorders, were tried and sometimes executed as witches.

• The disease can not skip generations. If the child or sibling of a victim does not carry the gene, they can not pass it on. If, however, they do carry the gene, they will eventually develop the disease.

• The Huntington's Disease Society of America, which provides support and services to patients and their families, was founded in 1967.

• The HDSA Illinois Chapter began in July of 1969 as the Midwest Chapter of the Committee to Combat Huntington's Disease. The original group covered Illinois, Indiana and Wisconsin. Eventually, the group split, and in 1985 the Illinois Chapter was formed.

• The disease has appeared in people as early as age 2 and as late as 80. Juvenile onset is generally more severe and progresses more rapidly. The average span for adult onset Huntington's is 17 years; for juveniles it is 10.

• The gene can expand when the carrier is male, making it more severe for inheritors of the disease. Juvenile onset Huntington's is more likely to be inherited from the father.

• On March 23, 1993, the Huntington's disease gene was discovered near the tip of chromosome 4. The mutant gene created a "molecular stutter" in the code word for glutamine, an amino acid. This leads to an excess production of glutamine - two to three times the normal amount.

• Discovery of the gene has led to direct, genetic testing for the disease. The HDSA along with other research groups including the International Huntington's Association and the World Federation of Neurology, have adopted guidelines regarding the test for professionals in the field and those being tested. In it, such issues are addressed as fetal testing, and grandchildren of HD patients being tested when the potentially affected parent has declined testing. "It's a very difficult and complex issue that will explode when gene testing becomes available for other diseases," says Dr. Kathleen Shannon, HD researcher. "There aren't any other patient support groups that have been working so long on the ethical issues."

• Research funding for HDSA in 1995 was $230,000.

Last updated: Dec. 4, 2010