Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:[Molecular analysis of hereditary nervous system diseases]. 1057 63

The paper describes basic scientific and practical results obtained in the past decade at the Research Institute of Neurology, Russian Academy of Medical Sciences, in the following areas: cerebrovascular diseases, degenerative and demyelinating diseases of the nervous system. Particular attention is paid to the development of national criteria for brain death, a concept of structural and functional levels of the vascular system, that of brain pathology in atherosclerosis and essential hypertension, rapid methods for evaluating neuronal apoptosis, a new method for diagnosing prionic diseases caused by a classical viruses, and a new method for histochemical diagnosis of the degree of reparative peripheral nerve processes in polyneuropathies and to the discovery of two new hereditary nervous system diseases, to direct DNA diagnosis of torsion dystonia, Wilson-Konovalov disease, Friedreich's disease, to the setting up of a national representative family register and DNA data bank for monogenous hereditary diseases, to the development of indications for craniocerebral bypass of cerebral vessels in multiple occlusions of great cerebral arteries and indications for programmable plasmapheresis in a number of autoimmune diseases of the nervous system, to the development of rehabilitative programmes for stabilogram biocontrol, markers of an active embologenous atherosclerotic plaque in the arteries supplying blood to the brain, etc.
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PMID:[Progress in neurosciences: initiatives within the framework of the program "Brain Decade (1990-2000)"]. 1152 25