[A neurogenetic study in an inbred population].
A Tatar family from a semi-isolated village in the Gorky Region is described in which a neurological and ophthalmological syndrome was inherited. In homozygotes this syndrome comprised the degeneration of subcortical cerebral ganglia (hyperkinesis), nystagmus, oligophrenia and a peculiar variant of tapetoretinal degeneration. Heterozygotes exhibited ophthalmological abnormalities, such as the similar defects of eye bottom and nystagmus. The two homozygotes observed were sibs derived from a marriage between first cousins. Five more families with other rare hereditary anomalies (both dominant and  recessive) were discovered in this village. The total inbreeding coefficient in the village was found to be 0.0075. The high degree of inbreeding, subisolation and high fertility are regarded as factors favorable for the distribution of rare deleterious mutations due to the founder-effect.
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D006948:Hyperkinesis / Q000235:genetics*; D007178:Inbreeding; D008297:Male; D010375:Pedigree; D012426:Russia; D013577:Syndrome
Neĭrogeneticheskoe issledovanie v inbrednoĭ populiatsii