[Molecular analysis of hereditary nervous system diseases]

The molecular genetic basis of a large group of monogenic hereditary neurological diseases is analyzed. Emphasis is laid on different types of mutations causing Huntington's chorea, autosomal dominant ataxias, Friedreich's disease, dopa-responsive and nondopa-responsive forms of torsion dystonia: the frequencies of these mutations and their molecular characteristics have been first investigated in the Russian population. Relationships between particular genotypes and various clinical variants of these disorders are analyzed. Genetic loci for two novel hereditary diseases of the nervous system, such as X-linked congenital cerebellar hypoplasia and an atypical form of autosomal recessive muscular dystrophy are characterized. Nosological entities of these clinical forms are substantiated in accordance with molecular genetic findings. DNA diagnostic techniques have been developed, which allows medical genetic counselling and prevention of relapses to be made in genetically burden families.