[Molecular genetic testing in the diagnosis of sporadic cases of Huntington's chorea].

Huntington's disease is characterized by autosomal dominant transmission and a complete penetrance of the mutant gene. Mutation in Huntington's disease consists in expansion of the unstable tandem CAG-trinucleotide repeats. This discovery allowed to perform a precise DNA diagnosis of the mutant gene carriers.

[A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].

There was performed the examination of a family with innate cerebellar hypoplasia. The disease was manifested in 7 males from 3 generations. X-linked recessive type of transmission of mutant gene was established.

[Endorphins and neurotensin in Huntington chorea].

Concentration of alpha-endorphin, beta-endorphin, gamma-endorphin and neurotensin in blood and beta-endorphin in cerebrospinal fluid of 48 patients with various forms of Huntington's disease was measured. Two modifications of immunoassay were used. The level of all neuropeptides studied was significantly decreased.

[Analysis of trinucleotide repeat expansion as a new mechanism of mutation in Huntington's chorea: theoretical and applied aspects].

The Huntington's chorea mutation consists of expansion of trinucleotide CAG repeats in the recently discovered gene IT-15. In this work, for the first time in a population of Russian patients, correlations between the number of copies of CAG repeats and various clinical characteristics of the disease are investigated. It is established that the degree of triplet expansion determines the age of onset of the disease and the rate of progression of the neurological and mental symptoms of Huntington's chorea, and it is also shown that the genetic instability of the mutant allele is considerably higher upon transmission of the disease gene along the paternal line.