Mozolevskiĭ Iu V
Zh Nevropatol Psikhiatr Im S S Korsakova. 1989;89(3):121-3.
Two cases of the X-chromosome-linked adult bulbospinal neuronopathy are reported. Patients displayed major signs of the disease: the onset at adult age, slowly progressing involvement of limb, facial and tongue muscles, light bulbar disorders, generalized fasciculation and neuronal signs in EMG investigation. Observed were also bilateral gynecomastia, fascicular tremor. Clinical differences in the 2 patients could be accounted for by different expression of the pathological gene.
报告了两例X染色体连锁的成人延髓脊髓神经元病病例。患者表现出该疾病的主要症状:成年起病,肢体、面部和舌肌缓慢进行性受累,轻度延髓功能障碍,全身肌束震颤以及肌电图检查中的神经元体征。还观察到双侧男性乳房发育、束颤。两名患者的临床差异可由病理基因的不同表达来解释。