From Big Medical Encyclopedia

GENTINGTON CHOREA (G. Huntington, amer. neuropathologist, 1851 — 1916; synonym: chronic chorea, the progressing chorea, a hereditary chorea) — the hereditary disease of a nervous system which is characterized by a widespread choreic hyperkinesia and dementia. It is described by Gentington in 1872. The disease is inherited on dominant type. Families with a large number of sick G. are observed x., tracked in a lineage. Frequency of diseases in different families is various — families where all children at whom parents suffered from G. got sick were described x. In other families there were few diseases. At enzygotic twins considerable concordance (identity on one sign) on G.'s gene was noted x. Prevalence, according to various data, from 3 to 6 on 100 000 persons. Both floors get sick equally often.

Pathological anatomy

At G. x. the atrophy of a brain with the degenerative changes which are the most expressed in brain bark and in subcrustal nodes, hl is found. obr. in a striate body (it is preferential in small ganglionic cells). patol, process the main symptomatology of G. is defined by this localization x.

Clinical picture

Hyperkinesias of face muscles, language and upper extremities at the patient with a chorea of Gentington.

The first symptoms of a disease appear most often at the age of 35 — 45 years, however in some cases the disease arises early, up to 10 years, or at late age, after 60 years. The course of a disease chronic, slowly progressing. The earliest and continuous display of a disease is choreic hyperkinesia (see) — the in-coordinate, bystry movements in all muscles, including also face muscles (fig). They amplify at autokinesias, sincere experiences, disappear during sleep, differ from a hyperkinesia at a small chorea in less bystry speed and an opportunity to detain for a short time the involuntary movements. Regarding cases elements of an athetosis join a choreic hyperkinesia (choreoathetosis), the torsion dystonia (see), myoclonic hyperkinesia. In process of progressing of process the gait (hopping, «comic», «foolish»), the speech (a slow pronunciation of words, «with a lump in a mouth», interrupted by a hyperkinesia of articulation muscles), handwriting falls apart (becomes uneven, and further the patient loses an opportunity to write). Paresthesias, pains, various vegetative frustration, diabetes, gluttony can be observed. The general epileptiform attacks are possible. Gradually changes of the personality, decrease in intelligence develop.

Dissociation of the described syndrome is possible: in a family with the burdened anamnesis one patients have only a choreic hyperkinesia without disturbance of intelligence, at others — the developing weak-mindedness without hyperkinesia is observed. In a final stage of a disease easing and disappearance of a choreic hyperkinesia with transition to Extrapyramidal rigidity — slow increase of constraint, increase in a muscle tone can be observed. In certain cases from the very beginning the disease is shown in the form of an akinetiko-rigid syndrome (see. Amyostatic symptom complex ).

At a pneumoencephalography (see. Encephalography ) expansion of side ventricles of a brain comes to light. At G. x. specific changes of a metabolism, exchange are not revealed.

At electroencephalography (see) the following changes decrease of bioelectric activity with disappearance of an alfa-rhythm, existence of slow waves come to light. The assumption of certain authors that on the available changes of EEG it is possible to distinguish among phenotypical healthy relatives of the patient which of them will get sick afterwards with G. x., only disturbance amino-acid === Mental disorders === does not podtverdilos.otmechatsya further Mental disorders are observed at the prevailing sick G.' most x. Mental deviations in this or that look are noted already in the premorbidal period in 30 — 60% of cases (according to different authors) even before emergence of choreic hyperkinesias and other manifestations; they come down to signs of intellectual inferiority and to psychopatholike frustration. Some foreign authors point to the frequency of suicide attempts, offenses and «social inferiority» of sick G. x. in the premorbidal period. However observations of domestic authors of it do not confirm; such phenomena are connected, apparently, with special social conditions, but are not genetically caused displays of a disease.

From the moment of manifestation of a disease some psychopathic lines taking place in the premorbidal period, in particular a hyperexcitability and an explosibility are usually sharply pointed while others, napr, hysterical and schizoid lines, are softened.

In many cases, especially at considerable expressiveness of psychopathic deviations or their combination to signs of motor insufficiency in the premorbidal period, remains not clear whether these changes are the premorbidal features connected with congenital anomaly, or initial displays of a low-progreduated disease. E. Ya. Shternberg's observations, F. Kehrer of healthy relatives of sick G. x. showed that similar psychopathic lines occur as at sick G. x., and among the family members who remained healthy. Therefore, existence of such psychopathic deviations can be not always regarded as the instruction on a disease in the future. In sharply expressed cases, especially with motor insufficiency, they shall be considered as the first, very precursory symptoms of the developing disease process, in others — as displays of the constitutional, genetically caused psychopathia.

Mental disorders of the manifest period arise more often after emergence of choreic hyperkinesias, but can precede them. Characteristic dementia accrues, psychoses quite often develop. The initial stage of dementia, as a rule, proceeds against the background of the expressed psychopathic and affective changes which are representing a point of premorbidal features or arose after manifestation of a disease. A hyperexcitability and an explosibility, emotional instability, tendency to hypochiondrial and tearful and depressive reactions sharply amplify. However at later stages stupid euphoria prevails.

Despite existence of common features for all atrophic processes leading to weak-mindedness, dementia at G. x. the wedge, features differs: rather slow progrediyentnost, i.e. relative a wedge, «high quality» is characteristic owing to what patients are hospitalized late or do not hospitalize since they keep working capacity within usual, simple activity. However during the performance of any tasks demanding to some extent creative mental work, patients are insolvent. Intellectual efficiency of patients is extremely uneven and subject to considerable fluctuations. Extent of disorders of storing and reproductive memory can also be various. However the devastation of stocks of memory coming eventually does not reach usually extreme degree which is observed at other atrophic processes. Very seldom orientation in a situation is completely broken or there comes gross violation hronol. sequences; also «the shift in the past» is not observed. From the very beginning of a disease the expressed defects of conceptual thinking, the progressing decrease in level of generalizations, abstraction and judgments available to the patient, the accruing narrowing and depletion of all intellectual activity can take place.

At one patients in process of increase of dementia process of gradual impoverishment and decrease in mental activity generally amplifies, at others — into the forefront extreme instability of attention, the raised otvlekayemost, inconsistency («irregularity») of thinking, inconstancy of installations and the purposes of intellectual work and the extreme irregularity of its results following from this act. Weak-mindedness at patients can be expressed in different degree. Between expressiveness of weak-mindedness and degree of hyperkinesias there is no feedforward.

Changes of the speech at G. x. generally are an effect of hyperkinesias. Signs of the general impoverishment of the speech and anamnestic frustration are sometimes observed.

Psychoses are observed rather often (approximately at a half of patients). In early stages of a disease reactive states, different, depending on premorbidal features, roughly hysterical or pseudo-dementive character prevail. The depressions which are observed quite often in the first years of a disease have usually gloomy and gloomy, spiteful and angry or sluggish and apathetic shade. Also paranoiac frustration, hl meet. obr. in the form of poorly systematized nonsense of jealousy, is more rare than nonsense of damage. Unlike other atrophic processes, at G. x. also pseudoparalytic psychoses with ridiculous megalomaniac nonsense of omnipotence and wealth, disinhibition, garrulity and ridiculous and expansive behavior can develop. The forecast in such cases adverse since usually rather quickly there comes deep dementia with stupid euphoria. Also gallyutsinoza, including characteristic of G. meet x. tactile and visceral with affektivno sharply negatively painted deception of perception. Sharply arising conditions of confusion, most often in the form of epileptiform excitement are observed.

The diagnosis

the Diagnosis does not represent special difficulties at a characteristic clinical picture, especially in the presence of identical hereditary burdening in the line of ascent. In sporadic cases diagnosis presents considerable difficulties.

The differential diagnosis

the Choreic and horeoatetozny hyperkinesia can be observed at a number of diseases. Existence of a corneal ring of Kayser — Fleischer, decrease in content of ceruloplasmin in a blood plasma is allowed to diagnose hepatocerebral dystrophy (see). At a senile chorea diagnosis is helped by detection of signs of the general and cerebral atherosclerosis (see). At lyuetichesky damage of a brain, especially at a general paralysis with defeat of subcrustal educations (see. General paralysis ), the research of specific reactions in blood and in cerebrospinal liquid gives the chance to carry out differential diagnosis. The choreic hyperkinesia can be observed also at tumors of a brain, encephalitis and other exogenous diseases, in these cases the accounting of development of a disease and identification a wedge, signs of a basic disease is necessary.

Temporary improvement medicamentous therapy gives treatment. Reception of tranquilizers — Stelazinum, Seduxenum, Elenium reduces a hyperkinesia. At an akinetiko-rigid syndrome appoint artan, Cyclodolum, Tropacinum, treatment left-dofoy is the most effective (l-dofa). An operative measure (stereotaxic operation) is possible, it can eliminate or weaken a hyperkinesia. Systematic courses of fortifying treatment, vitamin therapy are shown (vitamins B 1 , B 6 , C), glutaminic to - that. At mental disturbances patients are subject to treatment in mental health facilities.

Forecast adverse. Average life expectancy since the beginning of a disease apprx. 12 years.

Prevention. Patient with G. x. it is necessary to recommend abstention from a child-bearing.

See also Hereditary diseases , Chorea .

Bibliography: Davidenkov G. H. Hereditary diseases of a nervous system, page 263, M., 1932; Insarova N. G. Excretion of free amino acids with urine in families of patients with a chorea of Gantington, Zhurn, a neuropath, and psikhiat., t. 69, No. 6, page 828, 1969; The Multivolume guide to neurology, under the editorship of G. N. Davidenkova, t. 7, page 281, L., 1960; Shternberg E. Ya. Clinic of dementias of presenile age, L., 1967, bibliogr.; Shternberg E. Ya., Leybovich F. A. and Korchinskaya E. I. Clinical and elektroentsefalografichesky trials of patients with a chorea of Gantington and their relatives, Zhurn, neuropath, and psikhiat., t. 62, No. 12, page 1843, 1962; Hunting-t about n G. On chorea, Med. Surg. Reporter, v. 26, p. 317, 1872; K e h r e r F. A. Der Erbveitstanz (Huntingtonische Chorea), Handb. d. Erbkrankh., hrsg. v. A. Giitt, Bd 3, S. 185, Lpz., 1940; Markham of Page H. Huntington’s chorea in childhood, in book! Progress in neUrO-genetics, ed. by A. Barbeau a. J. - R. Brunette, v. 1, p. 651, Amsterdam, 1969, bibliogr.

P. A. Tkachyov; E. Ya. Shternberg (psikhiat.).