Tagged: Intrathecal pump
Huntington’s disease, a neuro-degenerative disorder, affects roughly 5-10 out of every 100,000 people. The disease acts by deteriorating many structures in the brain, beginning with the Caudate Nucleus, which is involved in motor control. By the end of their lives, patients are expected to lose about 30% of their brain mass.
In the last few decades much has been learned about the disease: we now know that it’s genetic, caused by a mutation on the 4th chromosome, and leads the ‘so-called’ huntingtin protein to grow too long and fold in on itself incorrectly. Parents with Huntington’s disease each have a 50% chance of passing it on to their child. Symptoms usually appear between 35 and 45 years of age, and the life expectancy after the first appearance of symptoms is 10-20 years. There currently is no treatment for Huntington’s itself, so patients can only receive a little bit of relief from their symptoms while the disease progresses.
So far, there is no real consensus among scientists about how exactly the disease works, but it’s generally agreed that it all starts with the mutated huntingtin protein. What if that protein was somehow changed or blocked? This idea prompted some experimentation by Holly Kordasiewicz and her colleagues.