[The characteristics of the familial polymorphism of Huntington's chorea].
Familial pleomorphism of Huntington's chorea (HC) was studied on the basis of examining the members of a large family (over 200 representatives) living in the Shamkhor District [correction of focus] of Azerbaijan, where the disease was diagnosed in 41 probands. The phenotype testing was performed with the aid of a standard map for assessing the neurological and neuropsychological status. The multidimensional statistical treatment made it possible to distinguish the four phenotypic groups: hyperkinetic, psychic, combined hyperkinetic and psychic, and akinetic-rigid. The clinical pleomorphism of the phenotypes distinguished was analyzed. Based on the logical search, a quantitative test map for estimating the disease gravity is provided. Use is made of the most informative signs.
Groppa
S A
SA
Tagiev
E Sh
ESh
D000328:Adult; D001382:Azerbaijan; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*
Osobennosti semeĭnogo polimorfizma khorei Gentingtona.