Iyer Vasudeva G, Shields Lisa B, Zhang Yi Ping, Shields Christopher B
Neurodiagnostic Center of Louisville, Louisville, USA.
Norton Neuroscience Institute, Norton Healthcare, Louisville, USA.
Cureus. 2023 Jun 2;15(6):e39884. doi: 10.7759/cureus.39884. eCollection 2023 Jun.
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. Duplication of the () gene is the most frequent genetic abnormality in CMT disease. Although rare compared to gene mutations, many different () gene mutations have been described in patients with CMT disease. gene mutations are known to cause hereditary neuropathies with heterogenous phenotypes ranging from early-onset severe demyelinating to adult-onset axonal forms. MPZ, the major protein component of peripheral nerve myelin, is important for myelin compaction. We report a family in which a mother and her son, both with adult-onset CMT disease, showed a newly described mutation p.Glu37Lys of the gene. The clinical features of the mother provided insight into the progression of the disease over decades, while features in the early stage of the disease could be studied in the son. Clinical, electrodiagnostic, and sonographic findings are described in the early and late stages of the disease. The gene mutation p.Glu37Lys is associated with clinical features of a progressive axonal type of adult-onset CMT disease.
夏科-马里-图斯（CMT）病是最常见的遗传性神经病。（）基因重复是CMT病中最常见的基因异常。与基因突变相比虽较为罕见，但在CMT病患者中已描述了许多不同的（）基因突变。已知基因突变会导致遗传性神经病，其表型各异，从早发型严重脱髓鞘到成人发病的轴索性。外周神经髓鞘的主要蛋白质成分MPZ对髓鞘压实很重要。我们报告了一个家庭，母亲和儿子均患有成人发病的CMT病，他们表现出一种新描述的基因p.Glu37Lys突变。母亲的临床特征有助于了解疾病数十年的进展情况，而儿子则可用于研究疾病早期阶段的特征。本文描述了疾病早期和晚期的临床、电诊断及超声检查结果。基因p.Glu37Lys突变与成人发病的进行性轴索性CMT病的临床特征相关。
