Trochee of Gentington
Trochee of Gentington — the hereditary, slowly progressing disease of nervous system which is characterized by choreic giperkineza, mental violations and the progressing dementia. Correspond to a concept of "a trochee of Gentington" also: a disease of Gentington, a trochee hereditary, a trochee degenerate, a trochee the progressing chronic. Usually a trochee of Gentington it begins to be shown clinically in the age period from 20 to 50 years. To patients with horey Gentington the symptomatic therapy directed to suppression of giperkinez is carried out. The disease has the adverse forecast, the lethal outcome comes on average in 10-13 years after the disease demonstration.
Trochee of Gentington
Trochee of Gentington — the hereditary, slowly progressing disease of nervous system which is characterized by choreic giperkineza, mental violations and the progressing dementia. Correspond to a concept of "a trochee of Gentington" also: a disease of Gentington, a trochee hereditary, a trochee degenerate, a trochee the progressing chronic.
Etiology and pathogenesis trochees of Gentington
The gene trochees of Gentington is on a short shoulder of a chromosome 4r16.3. It codes protein which function is up to the end not found out. It is proved what a trochee of Gentington develops as a result of increase in number of trinukleotidny repetitions — a tsitozin-adenine-guanine, located in the first ekzon of a gene. The triplet a tsitozin-adenine-guanine codes amino acid a glutamine therefore in protein the extended polyglutamic path is formed. Forming similarity of "lock fastener", the expanded polyglutamic site of protein of a gentingtin changes own information and strongly connects to other proteins. Aggregation of proteins results, interproteinaceous interactions are broken that leads to apoptosis of cages.
Clinical picture trochees of Gentington
Trochee of Gentington demonstrates, as a rule, aged from 20 to 50. Cases of a juvenile form of a disease are quite rare (no more than 10%); the earliest debut of a disease known today — 3 years. Typical manifestation trochees of Gentington at adults — a choreic syndrome, at teenage age it meets seldom. Localization of choreic giperkinez is the share of facial muscles that causes expressive grimaces with a language vysovyvaniye, twitching of cheeks, a serial nakhmurivaniye and/or a pripodnimaniye of eyebrows.
In some cases giperkineza in hands in the form of bystry bending and extension of fingers, in legs — in the form of serial crossing and cultivation of legs were observed aside. The movements are usually not so rapid as at small a trochee, but it is more difficult, sometimes slowed down (as atetoidny). With progressing trochees of Gentington giperkineza amplify, gain character of an atetoz and sharply expressed dystonia subsequently passing into a rigidnost.
At juvenile forms the disease demonstrates trochees of Gentington in 50% of cases in the form of a bradikineziya and a rigidnost. Spasms arise in 30-50% of cases (unlike adult patients). To development of a disease in patients there is a disorder of speech function. First of all there are problems with a sound pronunciation, the semantic and syntactic structure of the speech remains safe to the last stage of a disease. Over time the speed of the speech and its rhythm change.
Glazodvigatelny violations are observed in most cases at early stages trochees of Gentington. At patients automation of sakkadiruyushchy movements of eyeballs is broken: the latent period of the beginning of sakkadiruyushchy movements of eyes is extended, the speed of the translation of a look and accuracy of tracking decreases. With development of a disease in most of patients there is vertical, is more rare horizontal, sometimes combined .
Diagnostics and treatment trochees of Gentington
On KT or MPT of a brain define an atrophy of heads of kernels having a tail which accrues in process of progressing of a disease. Verification of the diagnosis of "a trochee of Gentington" is carried out at the molecular and genetic level. Define the number of turns of a triplet by polymerase chain reaction a tsitozin-adenine-guanine in HD gene. At adult patients the number of repetitions exceeds 36, at a juvenile form of a disease — 50.
Today specific treatment trochees of Gentington is not developed. Symptomatic treatment at the neurologist whose main objective is fight against choreic giperkineza is shown. Appoint the medicines reducing activity of dofaminergichesky systems of a brain (a haloperidol, ). The dose of medicine is increased by each 2-3 days. Efficiency of stereotaksichesky operations for treatment trochees of Gentington is not proved.
Forecast and prevention trochees of Gentington
In most cases trochees of Gentington forecast for life unfavourable. Death caused by various complications (pneumonia, stagnant warm activity) comes in 10-13 years of a course of a disease. Life expectancy of patients fluctuates from 45 to 55 years.
In lack of methods of inspection, the pathogen carriers allowing to reveal before manifestations of clinical signs trochees of Gentington, medico-genetic consultation represents certain difficulties. To families of patients do not recommend to have children further.