ABSTRACT
The wild-type huntington protein plays an important role during embryogenesis, development, and survival of neurons in the brain, especially in those areas of brain most effected in Huntington’s disease (HD). HD is a rare fatal hereditary neurodegenerative disease of the brain in which neurons (primarily in striatum and cortex) involved in movement, intellect, and emotions are gradually destroyed. This disease is characterized by jerking uncontrollable movements of the limbs, trunk, and face (chorea), progressive loss of cognitive functions, and the development of psychiatric problems. Each child of HD parent has a 50-50 chance of inheriting a mutated HD gene. The child with a HD gene will develop the disease at an early age that can vary from one individual to another, generally between 30 and 50 years. The disease progresses over 10-25 years, and patients ultimately become unable to take care of themselves. Juvenile HD generally appears before the age of 20 and progresses rapidly. Muscle rigidity progresses at a rapid rate leading to akinesia (loss of control of voluntary muscle movements). If a child has not inherited HD gene, his or her subsequent children will not develop the HD.
