[Hereditary spastic paraplegias: a comparative study of Russian populations].
15 families (27 patients) with hereditary spastic paraplegia (HSP) were found in the course of monogenic disorders investigation in 6 Russian populations. High HSP prevalence (7.21+1.61) x 10(-5) was found in Kirov Province [the frequency of the gene of autosomal-dominant form was (3.61 +/- 1.14) x 10(-5), autosomal-recessive-(64.5 +/- 9.74)- 10(-6)]. The pronounced interfamilial polymorphism of HSP was observed. Two families with rare autosomal-recessive variation of "clear" HSP as well as two families with HSP associated with peroneal amyotrophies were revealed. Accumulation of cases with unusual combination of autosomal-dominant HSP together with mental deficiency was remarkable in Kirov Province.
Rudenskaia
G E
GE
Mamedova
R A
RA
Petrin
A N
AN
Galkina
V A
VA
D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D012424:Rural Population; D012426:Russia / Q000453:epidemiology; D014505:Urban Population