Hereditary spastic paraplegias: a comparative study of Russian populations
Rudenskaia, G.E.; Mamedova, R.A.; Petrin, A.N.; Galkina, V.A.
Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova 96(4): 12-17
1996
ISSN/ISBN: 1997-7298 PMID: 9281269 Document Number: 459366
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)-10-5 was found in Kirov region (the frequency of the gone of autosomal-dominant form was (3,61 +- 1,14)-10-5 autosomal-recessive-(64,5 +- 9,74)-10-4). 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 amyotrophias were revealed. Accumulation of cases with unusual combination of autosomal-dominant HSP together with mental deficiency was remarkable in Kirov region.