Age associated axonal features in HNPP with 17p11.2 deletion in Japan
Age associated axonal features in HNPP with 17p11.2 deletion in Japan
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DOI：
10.1136/jnnp.2004.048140
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发表时间：
2005-08-01
影响因子：
11
通讯作者：
Sobue, G
中科院分区：
文献类型：
--
作者：
Koike, H;Hirayama, M;Sobue, G
目的：为了阐明17p11.2缺失的日本遗传性压力易感性神经病（HNPP）患者的临床病理特征的年龄相关变化，特别是关于轴突异常。方法：对来自48个HNPP家族的48名先证者患者的临床、电生理和组织病理学特征进行评估，包括超出对照组的年龄相关变化。运动传导研究表明，易受重复压迫的神经（正中神经、尺神经和腓神经）的复合肌肉动作电位随年龄的增长而恶化，但其他神经（如胫神经）则无此现象。感觉传导的研究表明，更深刻的减少动作电位比运动的研究，几乎没有年龄相关的变化。大的有髓纤维的损失被认为是在腓肠神经无论年龄在examination.Conclusions：不可逆的轴突损伤可能会发生在运动神经在HNPP患者的卡压部位，随着年龄的增长。感觉神经可表现出较深的轴突异常，但与年龄无关。HNPP的电生理学特征被推测为是从生命早期发生的异常和在截留部位的重复损伤引起的获得性特征的混合物。与Charcot-Marie-Tooth病1A型不同，年龄相关的轴突损伤可能不会发生，除非神经受到压迫。
Objective: To clarify age related changes in the clinicopathological features of hereditary neuropathy with liability to pressure palsy ( HNPP) in Japanese patients with deletion of 17p11.2, particularly concerning axonal abnormalities.Methods: Forty eight proband patients from 48 HNPP families were assessed as to clinical, electrophysiological, and histopathological features, including age associated changes beyond those in controls.Results: Motor conduction studies showed age associated deterioration of compound muscle action potentials in nerves vulnerable to repetitive compression (median, ulnar, and peroneal nerves), but not in others such as the tibial nerve. Sensory conduction studies revealed more profound reduction of action potentials than motor studies with little age related change. Large myelinated fibre loss was seen in the sural nerve irrespective of age at examination.Conclusions: Irreversible axonal damage may occur at entrapment sites in motor nerves in HNPP patients, progressing with aging. Sensory nerves may show more profound axonal abnormality, but without age association. The electrophysiological features of HNPP are presumed to be a mixture of abnormalities occurring from early in life and acquired features caused by repetitive insults at entrapment sites. Unlike Charcot-Marie-Tooth disease type 1A, age associated axonal damage may not occur unless the nerves are subjected to compression.