How can Huntington's disease happen?

summary

Huntington's disease (hd), also known as chorea major or Huntington's chorea, is an autosomal dominant neurodegenerative disease. The disease was discovered in 1872 by George Huntington, an American medical scientist. The main cause is the mutation of Huntington gene on chromosome 4, which produces the mutated protein. The protein gradually gathers together in the cell to form a large molecular mass, which accumulates in the brain and affects the function of nerve cells. In general, patients with middle-aged onset, performance for dance like movements, with the progress of the disease gradually lose the ability to speak, act, think and swallow, the disease will continue to develop for about 10 to 20 years, and eventually lead to death. Now let's get to know.

How can Huntington's disease happen?

First, Huntington's disease is autosomal dominant. Children have a 50% chance of getting sick. The patients with paternal dominance had earlier onset, while those with maternal dominance had later onset. But if the mother has been sick, in the process of pregnancy, due to the interaction between the mother and the fetus, most of the fetus abortion. And most of the children that are inherited by the father can survive. Like other polyglutamide repeat diseases, Huntington's disease often presents the phenomenon of genetic early onset, that is to say, the onset of Huntington's disease is earlier and the symptoms are more severe.

Second: the abnormal Huntington protein in patients with Huntington's disease will first affect the basal nucleus in the brain, making the basal nucleus unable to modify or inhibit the brain's instructions, so the whole body muscles will move uncontrollably, showing dance like movements. In the late stage of the disease, even the surface layer of the brain responsible for giving instructions will gradually die. At that time, the patient may lose all the ability to move, and have cognitive decline or even dementia.

Third: the main pathological change of Huntington's disease is atrophy of basal ganglia, especially caudate nucleus, putamen and globus pallidus. The loss of neurons was mainly found in the basal ganglia. The dysfunction of neurons in caudate nucleus and putamen was related to dance like movement. The loss of cortical neurons may be related to dementia.

matters needing attention

The main complications of Huntington's disease were epilepsy, hereditary ataxia and migraine, polycythemia, neurofibromatosis, Paget's disease, distal neurogenic muscular atrophy and amyotrophic lateral sclerosis.