[Genetic demographic study of an urban sample of Turkmen-teke with behavioral abnormalities]. / Genetiko-demograficheskoe izuchenie gorodskoi vyborki turkmen-teke s anomaliiami povedeniia.

Genetic and demographic studies of urban sample of Turkmen-teke (Ashkhabad city) were performed among probands-36 patients with diagnosis of "schizophrenia" and their 840 relatives. Clinical analysis revealed 27.8% of phenocopies. In other 26 families the genealogical analysis showed autosomal-dominant (12 families), probably, autosomal-dominant (9 families) as well as autosomal-recessive (3 families) types of inheritance of pathology, in two families the type being not established. The empiric risk of affection was determined to be 24.2% for parents, 75.5% for sibs and 33.3% for children. Mean number of children per one woman is 3.53, which is significantly lower than mean populational number (6.17). High level of endogamy of the urban sample tested is established, the total coefficient of inbreeding being 0.009856; grandparents of the probands appeared to be exclusively of rural origin. The negative action of selection (decreased fitness), preferentially monogenic type of heredity and high level of endogamy are discussed as factors providing broad hereditary heterogeneity of schizophrenia.

[Population and demographic study of the Turkmen Tekke]. / Populiatsionno-demograficheskoe izuchenie turkmen teke.

Genetical and demographic studies of typical rural population of Turkomen teke in Yangi-Kala village of the Ashkhabad region (about 5.000 inhabitants) were performed through the examination of a sample of 3528 persons. The population is characterised by intensive growth (mean number of children per one woman is 6.17), a high level of endogamy (the total coefficient of inbreeding being 0.010912), preserving the traditional marriage system (91.9 and 8.1% of intrageneric and intergeneric marriages, respectively). Migration does not significantly influence endogamy, because it takes place among kin families.

[Pathologic anatomy of the neurolipidoses]. / K patologicheskoi anatomii neirolipidozov.

The authors give a description of 2 cases (sibs) with neurolipidosis of the group of amaurotic idiocy. There was an atypicity of the clinical and pathomophological picture: prolonged development of the disease (24 and 29 years, with an onset at 3-4 years), the absence of ocular changes, a massive lesion of the cortex in relative preservation of the subcortical areas, brain stem and cerebellum. The perspectiveness of a comprehensive clinico-morphological study is discussed in the interpretation of the genesis of different forms of neurolipidosis.

[A neurogenetic study in an inbred population]. / Neirogeneticheskoe issledovanie v inbrednoi populiatsii

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.