title: [Hereditary diseases of nervous system in the population of Vladimir province].
abstract: The first population genetic study of hereditary disorders of the nervous system (HDNS) in Vladimir oblast was carried out. A total of 1,622,900 subjects, including 1,306,200 from the urban and 316,700 from the rural population, were tested. The population examined was characterized by virtually homogenous ethnic structure, with Russians constituting 95.76%. Pooled prevalence of HDNS in Vladimir oblast corresponded to the average prevalence for other Russian populations. Substantial differences between urban and rural populations in respect of the population load of HDNS and its nosological structure were not observed. A total of 22 nosological forms of HDNS were revealed, including thirteen autosomal dominant (193 families with 272 affected individuals), seven autosomal recessive (59 families with 66 affected individuals), and two X-linked (15 families with 17 affected individuals) diseases. The composition of the HDNS spectrum "nucleus" in Vladimir oblast displayed a number of differences from that in the majority of other populations examined. The HDNS in different regions of the area tested were characterized by different prevalence and spectrum. The data obtained may constitute a basis for regional registration of HDNS in Vladimir oblast.
authors.affiliation: Russian State Medical University, Moscow, 117869 Russia.
authors.forename: N V
authors.initials: NV
authors.lastname: Baryshnikova
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.forename: E G
authors.initials: EG
authors.lastname: Okuneva
authors.forename: V F
authors.initials: VF
authors.lastname: Sitnikov
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
mesh_terms: D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn; D006801:Humans; D009422:Nervous System Diseases / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D012423:Rural Health; D012426:Russia / Q000453:epidemiology; D014504:Urban Health