[Hereditary spastic paraplegias: a comparative study of Russian populations]. / Nasledstvennye spasticheskie paraplegii: svranitel'noe issledovanie rossiiskikh populiatsii.
Zh Nevrol Psikhiatr Im S S Korsakova
; 96(4): 12-7, 1996.
Article
em Ru
| MEDLINE
| ID: mdl-9281269
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Paraplegia
Idioma:
Ru
Ano de publicação:
1996
Tipo de documento:
Article