Huntington’s chorea

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Huntington’s chorea

Huntington’s chorea– a hereditary neurodegenerative disease characterized by a gradual onset traditionally at the age of 35-50 years and a combination of progressive choreic hyperkinesis and mental disorders. Frequency – 1 case / 10,000 population. Genetic aspects. Increase in the number of repeats of CAG triplets of the huntingtin gene (143100, 4p16-3,R); the protein is expressed in the nuclei of neurons. Paternal transmission of the gene leads to a more severe form of the disease, early onset and rapid progression. Pathogenesis. Progressive death of nerve cells. A pronounced decrease in the content of neurotransmitters (GABA, glutamate decarboxylase, substance P, enkephalins) in the basal ganglia. A pronounced decrease in the activity of the respiratory chain of mitochondria in the caudate nucleus. Pathomorphology. Macroscopically: atrophy of the caudate nucleus and expansion of the ventricles. Microscopically:

Clinical picture

    • Choreic hyperkinesis – fast sweeping erratic movements in combination with muscle hypotension. The beginning is gradual. Grimacing and dysarthria are often observed. Gait disorders are manifested in the so-called. dancing walk.
    • In typical cases, the occurrence of choreic hyperkinesis is preceded by a prodromal stage of mental disorders lasting up to 10 years.
    • Anhedonia and antisocial behavior are often the first manifestations of the disease
    • Personality changes: apathy, irritability, social withdrawal
    • Schizophrenia-like disorders
    • Mood disorders
    • Dementia (memory is often preserved until the advanced stages of the disease) 4 Obsessive-compulsive disorders.

Laboratory research

    • Decrease in GABA
    • Reducing the amount of glutamate decarboxylase
    • Reducing the amount of choline acetyl transferase
    • Method of magnetic resonance spectroscopy: increased content of lactate in the basal ganglia. Special Studies
    • genetic test
    • CT/MRI: caudate atrophy and lateral ventricular enlargement
    • Positron emission tomography: decreased glucose utilization in the caudate nucleus.

Differential Diagnosis

    • Other causes of dementia (Alzheimer’s disease, Parkinson’s disease, vascular dementia, Pick’s disease, HIV infection, Krbitzfeldt-Jakob disease)
    • Other types of dyskinesias, including medicinal ones.

Treatment:

Tactics of conducting

    • No specific treatment
    • genetic counseling
    • Symptomatic treatment
    • It is important for patients to remain physically active as long as possible.

Drug therapy

    • Antipsychotics (haloperidol 1 mg 2 r / day with an increase in dose after 3-4 days until a therapeutic effect is achieved [10-90 mg / day]; chlorpromazine [chlorpromazine], reserpine, starting from 0.1 mg / day).
    • For anxiety – benzodiazepine tranquilizers (for example, sibazon).

Precautions

    • Perhaps the development of drug parkinsonism in the treatment of neuroleptics. With the development of extrapyramidal disorders, central anticholinergics are prescribed
    • Drugs enhance the central effect of alcohol and other substances that depress the central nervous system.

Current and forecast. The disease progresses slowly and steadily, death begins on average 17 years after the onset of the first symptoms. Prevention is genetic counseling. Synonyms

    • Chorea degenerative
    • Chorea hereditary
    • Chorea

progressive chronic

See also Motor disorders in diseases of the nervous system, Parkinsonism officinalis ICD. G10 Huntington’s chorea MIM. 143100 Huntington’s chorea