title: [Population genetics of spinal muscular atrophy].
abstract: A population genetic study of spinal amyotrophy (SMA) in six Russian and three Central Asian regions was carried out. In total, 29 patients with autosomal recessive (AR) infantile proximal SMA (SMA I-III) and four patients with rare SMA forms with an unspecified type of inheritance were revealed. In Russian populations, the prevalence of SMA I-III is similar (1.5-2.5/100000), it is one of the most common hereditary neurological diseases. A tendency toward nonuniform territorial SMA prevalence is observed in genetically subdivided populations. The lesser SMA I-III prevalence in Central Asian populations might be due in part to inbreeding depression. A segregation frequency of 0.21 is in accordance with AR inheritance; the proportion of sporadic cases is 3%. Clinical genealogical data support the genetic unity of forms I-III. The origin of pedigrees with SMA in distant relatives is discussed.
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: R A
authors.initials: RA
authors.lastname: Mamedova
authors.forename: A N
authors.initials: AN
authors.lastname: Petrin
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
mesh_terms: D001209:Asia, Central / Q000453:epidemiology; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005828:Genetics, Population; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D012426:Russia / Q000453:epidemiology
vernacular_title: Populiatsionnaia genetika spinal'nykh myshechnykh atrofiĭ.