[Congenital autosomal-recessive familial spastic paraplegia].
The authors describe a family living in the Dagestan where three relative sibs, girls, suffered from familial spastic paraplegia. The variety described is marked by early debut, pronounced intrafamilial polymorphism of the disease course, autosomal recessive type of inheritance which, according to the reported data, is marked by frequently occurring combination with damage to other organs and systems (the familial spastic paraplegia "plus"). The "pure" disease variety seen in autosomal recessive type of inheritance, detection of the disease symptoms since the birth indicate that the case in question is a rare clinical variety of familial spastic paraplegia.
Badalian
L O
LO
Umakhanov
R U
RU
Temin
P A
PA
Arhipov
B A
BA
Bulaeva
N V
NV
Sakidebirov
G M
GM
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D009128:Muscle Spasticity / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics
Vrozhdennaia autosomno-retsessivnaia semeĭnaia spasticheskaia paraplegiia.