Familial neuroacanthocytosis?

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summary

Familial neuroacanthocytosis? Neuroacanthocytosis or acanthocytosis, also known as Bassem kornzweig syndrome and Levine Critchley syndrome, is an independent extrapyramidal disease. The main defect of this disease is blood β The decrease or deficiency of lipoprotein is a rare hereditary disease, so it is also called non-alcoholic disease β- Lipoproteinemia.

Familial neuroacanthocytosis?

Clinically, it should be differentiated from chronic progressive chorea. The disease is also a family dominant hereditary disease. Due to gene mutation or excessive expansion of CAG trinucleotide repeat sequence of DNA matrix in the fourth pair of chromosomes, brain nerve cells continue to degenerate, and body cells mistakenly produce a harmful substance called "Huntington protein". In addition, it also needs to be differentiated from globus pallidus, substantia nigra, erythematous degeneration (HSD) and Tourette syndrome.

It is generally believed that neuroacanthocytosis (NA) is a rare genetic disease, in which ataxia is the main type, showing autosomal recessive inheritance, hyperactivity is the main type, showing autosomal dominant inheritance, occasionally sporadic cases. Some people think that it may be a sex linked genetic disease related to X chromosome gene defect.

Examination items: brain CT examination, positron emission computed tomography (PET), electromyography, erythrocyte osmotic fragility test, erythropoietin, red blood cell life span, red blood cell distribution width (RDW), red blood cell diphosphate glycerol transferase. There is no effective treatment. Sedatives such as phenobarbital, diazepam and haloperidol may be effective on personality and behavior disorders, limb chorea and orofacial movement disorders, but they are easy to induce PDs. Dopaminergic drugs may be helpful to PDs.

matters needing attention

Neuroacanthocytosis belongs to congenital chromosomal abnormalities, and due to the difficulty in treatment of genetic diseases of the nervous system, the curative effect is not satisfactory, so it is more important to prevent the onset of the disease. The preventive measures include avoiding consanguineous marriage, carrying out genetic counseling, carrier gene testing and prenatal diagnosis. If chromosomal abnormalities are found, artificial abortion should be chosen as far as possible to prevent the birth of children.