Markowa E D, Iwanowa-Smolenskaja J A, Alijewa L M, Członkowska A
Neurol Neurochir Pol. 1981 Jul-Aug;15(4):373-6.
The authors analyse the polymorphism of certain hereditary extrapyramidal system diseases and call attention to their intrafamilial and interfamilial characteristics. Various diseases are described: 5 forms of hepatolenticular degeneration, 2 forms of torsion dystonia, 3 forms of idiopathic tremor, 3 forms of Huntington's chorea. Clinical peculiarities, peculiarities of the course of the disease, and biochemical changes in these diseases are discussed. In the forms associated with rigidity or with hyperkinesis in the same disease (torsion dystonia, Huntington's chorea) abnormalities of various directions were discovered in the metabolism of neurotransmitters and amino acids, which make possible application of differentiated pathogenetic therapy.
作者分析了某些遗传性锥体外系疾病的多态性，并提请注意它们在家族内和家族间的特征。描述了各种疾病：5种肝豆状核变性形式、2种扭转性肌张力障碍形式、3种特发性震颤形式、3种亨廷顿舞蹈病形式。讨论了这些疾病的临床特点、病程特点以及生化变化。在同一疾病（扭转性肌张力障碍、亨廷顿舞蹈病）中与强直或运动亢进相关的形式中，发现了神经递质和氨基酸代谢的各种异常，这使得应用差异化的病因治疗成为可能。
