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.
Some history and facts on Huntington's disease:
- 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
- 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
- Research funding for HDSA in 1995 was $230,000.
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Last updated: Dec. 4, 2010