Genotype-Phenotype Correlations In Movement and Neuromus

临床神经遗传学单位研究计划的重点是识别和表征基因和遗传机制涉及遗传性运动障碍和神经肌肉疾病。主要发现：我们已经发现并描述了一组新的患者，其中肌原纤维肌病与肌肽（MYOT）基因突变相关。我们概述了几种表型不同的结蛋白病的变种;临床综合征和结蛋白基因中致病突变的位置和类型之间的相关性已经建立。本文分析了5个无关家系60例脊髓性肌萎缩症（dSMA-V）和腓骨肌萎缩症2D型（CMT 2D）的临床和病理特点，提出了诊断标准。我们描述了一种不寻常的形式脊髓小脑共济失调17型模仿克雅氏病。在两个美国大家族中，震颤-肌张力障碍型原发性震颤被证明与染色体6p上的7 cM位点和染色体11 p上的21 cM区域连锁。明确的Viliuisk脑脊髓炎患者表现出与疾病的临床表现相关的鞘内IgG合成的证据，我们最近已经确定，这些免疫球蛋白与单纯疱疹病毒1型和2型强烈反应，表明这些或相关病毒的病因作用。

The Clinical Neurogenetics Unit research program is focused on identification and characterization of genes and genetic mechanisms involved in hereditary movement disorders and neuromuscular disorders. Major findings: We have identified and characterized a new group of patients in which Myofibrillar myopathy was associated with mutations in Myotilin (MYOT) gene. We outlined several phenotypically distinct variants of desminopathy; a correlation between the clinical syndrome and the position and type of the causative mutation in the desmin gene have been established. Clinical/pathological characteristics of spinal muscular atrophy (dSMA-V) and type 2D of Charcot-Marie-Tooth disease (CMT2D) were analysed in 60 patients from 5 unrelated families; diagnostic criteria for this disorder were proposed. We described an unusual form of spinocerebellar ataxia type 17 mimicking Creutzfeldt-Jakob disease. Tremor-dystonia type of essential tremor in two large American families was shown to be linked to a 7 cM locus on chromosome 6p and 21 cM region on chromosome 11p. Patients with definite Viliuisk encephalomyelitis show evidence for intrathecal IgG synthesis correlating with the clinical manifestations of the disease; we have recently established that these immunoglobulins strongly react with Herpes simplex type 1 and 2, suggesting an etiological role for these or related viruses.