Luigetti Marco, Conte Amelia, Madia Francesca, Mereu Maria Lucia, Zollino Marcella, Marangi Giuseppe, Pomponi Maria Grazia, Liberatore Giuseppe, Tonali Pietro Altilio, Sabatelli Mario
Istituto di Neurologia, Università Cattolica del Sacro Cuore, Pol. A Gemelli Largo Gemelli 8, Rome, Italy.
Muscle Nerve. 2008 Aug;38(2):1060-4. doi: 10.1002/mus.21083.
In this study we describe four patients from the same kindred who were affected by an autosomal-dominantly inherited peripheral neuropathy. They presented an unusual combination of clinical, electrophysiological, and pathological findings in association with a new mutation of the PMP22 gene. Clinically, three patients had carpal tunnel syndrome symptoms and one patient had late-onset peroneal atrophy. Motor and sensory nerve conduction velocities were reduced without focal slowing at entrapment sites. Nerve biopsy disclosed diffuse hypomyelination with focal thickening of the myelin sheath in some fibers. Sequence analysis of the PMP22 gene showed a single-nucleotide deletion (227delG) in the affected patients. This mutation, which has not been reported previously, leads to an open reading frame shift and probably to a truncated and unstable PMP22 protein. We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings.
在本研究中，我们描述了来自同一家族的4例受常染色体显性遗传的周围神经病影响的患者。他们呈现出临床、电生理和病理结果的异常组合，并伴有PMP22基因的新突变。临床上，3例患者有腕管综合征症状，1例患者有迟发性腓骨肌萎缩。运动和感觉神经传导速度降低，但在卡压部位无局灶性减慢。神经活检显示弥漫性髓鞘脱失，部分纤维有髓鞘局灶性增厚。PMP22基因序列分析显示，受累患者存在单核苷酸缺失（227delG）。这种以前未报道过的突变导致开放阅读框移位，可能产生截短且不稳定的PMP22蛋白。我们得出结论，PMP22基因的这种新的227delG突变导致了一种伴有压力性麻痹倾向的轻度遗传性神经病，具有非典型的临床和电生理表现。
