Huntington's disease, the first portion

Chorea Huntington (Huntington's disease) is an autosomal dominant disease that manifests itself in the form of abandonment hyperkinesias and intellectual development.



Genetically determined disorder of the functions of the central nervous system is described for the first time in 1872 by George Huntington.



Huntington's disease is due to a defective gene which is located on the short arm of the fourth chromosome. Altered gene responsible for encoding a protein called huntingtin, located throughout the brain.



In Huntington's chorea occurs atrophy of the frontal lobes of the brain, and severe damage to the neurons of the striatum.



Symptoms of the disease usually occurs at 30-40 years of age, but are reported cases of Huntington at 20 year old patients.



The disease begins imperceptibly and manifests with mild irritability and poor concentration. Gradually, the disease progresses and symptoms enhance the appearance of hyperkinesias and intellectual izostvyane.



Characteristic symptom of the early stages of Huntington's chorea is the emergence of fast and involuntary trochaic hyperkinesias. At first facial tics in the form of wink and mugging, but gradually increase and cover all muscle groups.



Tremor of the extremities, and the loss of voluntary control of muscles are responsible for the so-called. "Dancing" gait characteristic of patients with Huntington's chorea.



Due to the effect of chewing and swallowing muscles appear difficulty speaking and even eating. Trochaic movements disappear during sleep.



Huntington's disease is characterized by intellectual retardation, slowness in thinking and failure to comply with basic daily duties.


In Huntington's chorea is observed a tendency to depression, hallucinations, paranoia. The symptoms are very similar to those seen in schizophrenia and therefore many patients, especially in the early stages, when it appeared typical trochaic hyperkinesias was misdiagnosed as schizophrenic. In later stages of the disease intellectual, the memory and movement disorders are compounded much more than in schizophrenia.



Disease progresses and inevitably leads to heart failure, respiratory arrest or pneumonia, dysphagia (difficulty swallowing). The mortality rate in patients with Huntington's chorea usually occurs about 15 years after onset of illness.



Although a treatment with neuroleptics, and lately by antagonists of N-methyl D-aspatrat receptors, the prognosis for these patients is unfavorable.

Huntington's disease can be detected in the early stages of embryo development. This conclusion is reached group of Australian scientists from the University "Makguari."

Researchers have studied human embryonic stem cells in Huntington's disease located between the fifth and seventh day of development. They tracked how the mutation affects the development of the cells and compared the synthesis of proteins in embryonic cells of Huntington's syndrome and healthy stem cells. The greatest deviation from normal development was found in the synthesis of proteins associated with the construction of the cell mitochondria.

Earlier research has also been detected in lesions in mitochondrial disease, but to a much later stage of development of the cells (in mice two weeks and in elderly people). Australian scientists, however, for the first time managed to trace this process as early as embryonic cells.