Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Everyone with Huntington's disease has inherited the same type of mutation from their mother or father, an extra-long repetitive stretch of the sequence C-A-G in their HD gene. But the length of the mutation varies between individuals, and longer repeats are associated with earlier onset of symptoms. A huge new international study reveals that slightly longer-than-normal CAG stretches are much more common than we thought. Surprisingly, this turns out to be good news.
Huntington’s disease is relatively rare. In western countries, estimates of the number of people with symptoms of HD are about 1 in 20,000 people. It's been suggested that HD is even rarer in China, but of course China is a huge place. HDBuzz attended the launch of the new Chinese HD Network to learn whether this is true, and what a Chinese HD Network could mean for HD patients around the world.
In an article in the medical journal The Lancet, Sir Michael Rawlins claims that traditional estimates of how common Huntington’s disease is, might be dramatic underestimates. Why might this be, and what does it mean for the HD community and the search for effective treatments?