Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany.
Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany; Medical Genetics Centre - MGZ, Bayerstraße 3, 80335 Munich, Germany.
Neuromuscul Disord. 2019 May;29(5):392-397. doi: 10.1016/j.nmd.2019.02.007. Epub 2019 Feb 20.
Neurofilaments are structural components of motor axons. Recently different variants resulting in translation of a cryptic amyloidogenic element of the neurofilament-heavy polypeptide (NEFH) gene have been described to cause Charcot-Marie-Tooth disease type 2CC (CMT2CC) by forming amyloidogenic toxic protein aggregation. Until now only few CMT2CC patients have been described. Clinical features include progressive muscle weakness and atrophy mainly affecting the lower limbs, hyporeflexia and distal sensory impairment. In addition to classic CMT features, some patients were reported to have increased serum creatine kinase levels, an electrophysiologic pattern suggestive for myopathies, and pyramidal signs. Ambulation is progressively impaired, most patients are non-ambulant in the 5th decade. Nerve conduction testing shows a symmetrical, distal and proximal sensorimotor axonal neuropathy. Here we describe the first Austrian pedigree suffering from CMT2CC and give an overview on the phenotype of CMT2CC described so far.
神经丝是运动轴突的结构组成部分。最近，已经描述了不同的变体，这些变体导致神经丝重链多肽（NEFH）基因中一个隐秘的淀粉样形成元件的翻译，从而通过形成淀粉样毒性蛋白聚集导致 2 型 Charcot-Marie-Tooth 病（CMT2CC）。到目前为止，只有少数 CMT2CC 患者被描述过。临床特征包括进行性肌肉无力和萎缩，主要影响下肢，反射减弱和远端感觉障碍。除了经典的 CMT 特征外，一些患者的血清肌酸激酶水平升高，电生理模式提示肌病，以及锥体束征。步行能力逐渐受损，大多数患者在 50 岁时无法行走。神经传导测试显示对称的、远端和近端感觉运动轴索性神经病。在这里，我们描述了第一个患有 CMT2CC 的奥地利家系，并概述了迄今为止描述的 CMT2CC 的表型。
