Zagorovskaia T B, Illarioshkin S N, Slominskiĭ P A, Ivanova-Smolenskaia I A, Markova E D, Limborskaia S A, Levin O S, Miloserdova O V, Proskokova T N, Bagyeva B Kh, Brice A
Zh Nevrol Psikhiatr Im S S Korsakova. 2004;104(8):66-72.
Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical analyses of patients examined confirmed the phenotypical polymorphism of "parkinopathy". We also showed the absence of asymmetric manifestation--an important and underestimated so far sign of the disease. The results of the study may be considered as a valuable clue to the clinical diagnosis of parkin-related juvenile parkinsonism in Russian population and implemented for mutation screening and medico-genetic counseling of affected families.
对来自20个家庭的26名同胞进行了青少年帕金森病的临床和基因分析。观察到该疾病的异质性。在41%的患者中发现了帕金森基因（定位PARK2，染色体6q25.2 - 27）的突变，其中缺失突变的发生率高于点突变。对所检查患者的比较临床分析证实了“帕金森病”的表型多态性。我们还表明不存在不对称表现——这是该疾病迄今为止一个重要但被低估的体征。该研究结果可被视为俄罗斯人群中与帕金森相关的青少年帕金森病临床诊断的宝贵线索，并用于受影响家庭的突变筛查和医学遗传咨询。
