Introduction

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion.

Aim

To determine a yield of the genetic analysis of PMP22 gene deletion in patients with compression neuropathies.

Method

We included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of the PMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR).

Results

PMP22 deletion was found in 34 (30.3%) patients. Patients with genetically confirmed HNPP had 12 years earlier disease onset compared to other patients with compression neuropathies (p < 0.01), more nerves affected during lifespan (5.5 ± 3.5 vs. 3.0 ± 2.0, p < 0.01) and at the time of referral (2.7 ± 2.5 vs. 2.0 ± 1.9, p < 0.05). HNPP patients had positive family history more frequently (p < 0.01). Foot deformities (pes cavus and hammertoe), symmetric muscle atrophy in lower legs and absent muscle reflexes in lower limbs were more common in HNPP patients. NCS abnormalities were also more common in HNPP group. Multiple linear regression analysis identified positive family history (β = + 0.35, p < 0.01) and decreased sensory conduction velocity in at least three sensory nerves (β = + 0.40, p < 0.01) as independent predictors of the PMP22 deletion.

Conclusion

Among patients with compression neuropathies, those with a positive family history, earlier symptom onset and NCS abnormalities had a higher chance to have PMP22 deletion.

中文翻译：

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压迫性神经病患者的 PMP22 缺失分析的产量。

介绍

遗传性压力性麻痹性神经病 (HNPP) 是一种罕见的神经肌肉疾病，主要由PMP22缺失引起。

目标

确定压缩性神经病患者中PMP22基因缺失的遗传分析的产量。

方法

我们纳入了 112 名临床怀疑 HNPP 诊断的患者。对双侧运动和感觉神经进行神经传导研究 (NCS)。使用实时聚合酶链式反应 (RT-PCR) 确定PMP22基因拷贝数。

结果

在 34 名 (30.3%) 患者中发现了PMP22缺失。与其他患有压迫性神经病的患者相比，经基因证实的 HNPP 患者发病时间早 12 年（p  < 0.01），在整个生命周期（5.5 ± 3.5 对 3.0 ± 2.0，p  < 0.01）和转诊时受影响的神经更多（p < 0.01）。 2.7 ± 2.5 与 2.0 ± 1.9，p  < 0.05）。HNPP患者阳性家族史较多（p  <0.01）。足部畸形（高弓足和锤状趾）、小腿对称性肌肉萎缩和下肢肌肉反射缺失在 HNPP 患者中更为常见。NCS 异常在 HNPP 组中也更常见。多元线性回归分析确定阳性家族史（β  = + 0.35，p  < 0.01）和至少三个感觉神经的感觉传导速度降低（β  = + 0.40，p  < 0.01）作为 PMP22 缺失的独立预测因子。

结论

在压迫性神经病患者中，有阳性家族史、早期症状发作和 NCS 异常的患者发生PMP22缺失的机会更高。