Parkinson's Clinic of Eastern Toronto & Movement Disorders Center, Toronto, ON, Canada.
Int J Neurosci. 2012 Mar;122(3):119-23. doi: 10.3109/00207454.2011.633719. Epub 2011 Nov 30.
Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is an autosomal dominant disorder and is usually characterized by episodes of recurrent and painless focal motor and sensory peripheral mononeuropathy. This condition is usually localized around areas of entrapment (predominantly the wrists, knees, elbows, and shoulders). The genetic locus of the disease is chromosome 17p12. A deletion of the PMP22 gene results in the lack of peripheral myelin protein, a key component to the myelin sheet of peripheral nerves. However, this disease may be completely asymptomatic until an event, such as a minor trauma, triggers these episodes, as seen in our presented case report. The diagnosis of HNPP can be somewhat challenging, as other diseases, such as Charcot-Marie-Tooth disease type 1A (CMT) and Hereditary Neuralgic Amyotrophy (HNA) must be included in the differential diagnosis due to their overlapping clinical features. There are currently no treatments to cure the disease, but therapies seek to alleviate the symptoms and recurring episodes.
遗传性压力易感性神经病（HNPP）是一种常染色体显性遗传病，通常表现为反复发作的无痛性局灶性运动和感觉周围单神经病。这种情况通常局限于压迫部位（主要是手腕、膝盖、肘部和肩部）。该疾病的遗传基因位于 17p12 号染色体上。PMP22 基因突变会导致外周髓鞘蛋白缺失，而该蛋白是外周神经髓鞘板的关键组成部分。然而，在轻微创伤等事件触发这些发作之前，这种疾病可能完全没有症状，正如我们报告的病例中所见。HNPP 的诊断具有一定挑战性，因为由于其重叠的临床特征，还必须将其他疾病，如 1A 型腓骨肌萎缩症（CMT）和遗传性神经痛性肌萎缩（HNA）纳入鉴别诊断。目前尚无治愈该疾病的方法，但治疗旨在缓解症状和反复发作。
