两种 1A 型遗传性运动感觉神经病的中间传导速度。
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
机构信息
Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.
Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.
出版信息
Eur J Neurol. 2024 May;31(5):e16199. doi: 10.1111/ene.16199. Epub 2024 Feb 26.
BACKGROUND AND PURPOSE
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.
METHOD
Case report.
RESULTS
Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38 m/s, with values ranging from 41.9 to 45 m/s in the median nerve and from 42 to 42.3 m/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30 m/s.
CONCLUSION
These cases, although very rare, highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.
背景与目的
Charcot-Marie-Tooth 病 1A 型（CMT1A）是全球最常见的遗传性周围神经病，其神经传导速度（NCV）通常较慢，多数情况下低于 38m/s。现报告两例上肢运动 NCV 超过 38m/s 的不相关 CMT1A 患者。
方法
病例报告。
结果
报告了两例经基因证实的 CMT1A 患者，分别来自两个不相关的家族（一个是英裔，另一个是巴西裔）。这两个人的上肢运动 NCV 均超过 38m/s，正中神经的 NCV 值范围为 41.9-45m/s，尺神经的 NCV 值范围为 42-42.3m/s。他们表现出非常轻微的表型，CMT 神经病评分 2 版（CMTNSv2）分别为 6 和 5。相比之下，两个家族中的受累亲属均表现出典型的表型，疾病表现更为严重（CMTNSv2 范围为 12-20），运动 NCV 低于 30m/s。
结论
尽管这些病例非常罕见，但强调了在运动 NCV 处于中间值的患者中检测 PMP22 重复的重要性。
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