“Hiccup” in HD Gene Contributes to Age of HD Onset


Dr. Leora Fox from Huntington’s Disease Society of America keeps you up-to-date on HDSA research activities, recently published work about Huntington’s disease, historical moments in HD research and more. This week, she discusses a new finding: a vast majority of people with HD have a certain type of genetic “hiccup” near the end of their CAG repeat – one CAA.  Very rarely, this CAA hiccup occurs twice (for about 1 in 100 people with HD). In these individuals, symptoms tend to occur later in life. Even more rarely, the CAA hiccup is absent (for about 1 in 300 people with HD). For these individuals, symptoms tend to occur earlier. This discovery was made simultaneously by two separate research groups working with data from more than 9,000 individuals with HD, and formally published this month.

Read more on her blog.

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