Huntington’s disease, or Huntington’s disease, was first scientifically described in 1872 by George Huntington, an American physician. It is a hereditary neurodegenerative disorder transmitted in the autosomal dominant mode. It is caused by a defective gene located on chromosome 4. A child with one of the parents carrying the mutated gene has a 50% risk of inheriting this gene.
- Huntington’s disease causes destruction of the basal ganglia, the caudate nucleus, the putamen and when the disease progresses the cerebral cortex.
- It is a disease that combines both choreic disorders and mental disorders. It cumulates constant abnormal movements which makes social life very difficult, then loss of autonomy and dementia after a few years.
- Huntington’s disease affects men and women indiscriminately. It appears in all racial groups but more often among the populations of European origin.
- Symptoms of the disease usually occur in adulthood, but juvenile forms occur before the age of 20 and late forms after the age of 60.
The prevalence of the disease is estimated to be between 5 and 10 per 100,000 in the Caucasian-type population but could be underestimated and exceed 12 per 100,000 according to data from the Huntington’s disease Association. In France there are about 6,000 patients and the number of people carrying the mutated gene is estimated at 18,000. Any carrier of this gene will develop the disease one day.
The gene responsible for Huntington’s disease was discovered in 1993. It was located on the end of the short arm of chromosome 4. It is not yet clear how it causes the disease but it is known that it produces a protein called “huntingtin”.
The genes are made of DNA and the DNA molecules consist of four bases, namely A (adenine), T (thymine), G (guanine) and C (cytosine). The gene responsible for Huntington’s disease has a region in which a three base sequence (CAG) is repeated many times. The CAG triplet programs the manufacture of glutamine. Normally, this triplet is repeated 6 to 31 times. In people with Huntington’s disease, the triplet is repeated 36 to 121 times.
Symptoms of Huntington’s disease
The symptoms of Huntington’s disease vary from patient to patient, making diagnosis sometimes difficult to establish. They are motor, neuropsychiatric, cognitive or somatic.
- Typical choreic movements
- Eye movement abnormalities
- motor incoordination at the origin of disorders of balance and difficulties of walking
- Apraxia of mimicry
In advanced stages of Huntington’s disease, it is typical to note that involuntary movements are rarer and limbs stiffen more, which requires professional outside help.
- The presence of a depressive syndrome during the course of the disease is frequent
- personality change: irritability, instability, aggressiveness
- Sometimes psychotic episodes: hallucinations, delusions
- Alteration of cognitive functions (decrease of initiatives, loss of spontaneity, impossibility of concentration and decrease of communication) resulting in impaired professional performance and inability to assume family responsibilities.
Huntington’s disease: where is the research going?
In order to perhaps end some day with Huntington’s disease, medical research is working on a treatment for the future. Right now the use of Balance CBD happens to be effective for you and researches are going on for the same. Even though they are still experimental, there are now many ways of treatment that give hope to patients and their families, a selective inhibitor of sirtuin 1 to protect neurons, a bone marrow transplant to improve motor skills, gene silencing or phosphodiesterase inhibition.