1979, Neurodegeneration with iron deposition in the brain or Hallervorden - Spatz disease is a very rare neurodegenerative disease, accompanied by the deposition of iron in the basal ganglia (in the pale ball and in the substantia nigra). This autosomal recessively inherited disease was first described in 1922 by Julius Galleworden and Hugo Spatz. The incidence of the disease is on average 1-3 people per 1 million.
In the majority of patients, especially during the early manifestation of the disease, mutations are detected in the gene encoded by the pantothenic kinase enzyme (PANK2), in chromosome 20p13. This enzyme plays a crucial role in the biosynthesis of coenzyme-A. Defect of the enzyme leads to accumulation of cysteine, which in the presence of iron (which means - especially in the field of black matter and basal ganglia) leads to an increase in free radicals and contributes to oxidative damage to the brain. The process as a whole leads to the deposition of iron and neuromelanin.
The usual onset of the disease in childhood, sometimes with severe symptoms already in the first year of life. Rarely possible manifestation in adulthood. First, extrapyramidal motor disturbances occur, especially walking disorders with a tendency to fall or dystonia of the legs, less often - mental disorders. Further, movement disorders (dystonias, choreoathetosis, tremor) with stiff muscles, hyperreflexia, and mental disorders (usually intellectual disorders). Dysarthria and dysphagia are also found. Retinal pigmentation or optic nerve atrophy can be detected [1]. In adults, parkinsonism-plus syndrome predominates - with dementia, hyperreflexia and prominent dystonia. The course of the disease is progressive, the neurological condition of the patients deteriorates gradually.
Causal (etiological) therapy is unknown. There have been attempts to treat the enzyme defect. Chelators (“traps”) of iron, such as Deferoxamine, have no effect, however, since 2007, attempts have been made to treat ferriprox (deferipron®) with iron chelators. In animal experiments, deep brain stimulation led to increased dystonia and hyperkinesis. Hypokinesia can be treated with levodopa, hyperkinesis - with anticholinergics. However, the effect of levodopa in patients with a mutation of the PANK2 gene is very doubtful. For muscle relaxation and relief of pain, baclofen or benzodiazepines are often prescribed.
Due to Julius Hallervorden’s links with the program of euthanasia in fascist Germany, it was proposed to call the disease “neurodegeneration with iron deposition in the brain” (NBIA-Syndrom - Neurodegeneration with Brain Iron Accumulation). In the world, the name of the disease is common as "NBIA"
plаylist • Психиатрия и невропато...
Oligophrenia, Imbecility, Depressive syndrome, Depression, Epileptic (concentric) dementia, Korsakovsky amnestic syndrome, apatho-abulic syndrome, total dementia, schizoaffective psychosis, psychosis, schizophrenia, manic syndrome, epilepsy, debility, stupefaction, Dementia, Alzheimer's disease, Pick health, neurosis, hysteria. hysterical neurosis, imbecility, catatonic syndrome, delirium, acute delirium, Korsakov syndrome, meningoencephalitis, encephalitis, otogenic meningoencephalitis, paraphrenic syndrome, paralysis, progressive paralysis, dementia, mental automatism, mental automatism syndrome, etc.
plаylist • Психиатрия и невропато...
Oligophrenia, Imbecility, Depressive syndrome, Depression, Epileptic (concentric) dementia, Korsakovsky amnestic syndrome, apatho-abulic syndrome, total dementia, schizoaffective psychosis, psychosis, schizophrenia, manic syndrome, epilepsy, debility, stupefaction, Dementia, Alzheimer's disease, Pick health, neurosis, hysteria. hysterical neurosis, imbecility, catatonic syndrome, delirium, acute delirium, Korsakov syndrome, meningoencephalitis, encephalitis, otogenic meningoencephalitis, paraphrenic syndrome, paralysis, progressive paralysis, dementia, mental automatism, mental automatism syndrome, etc.
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