Mathis Stéphane, Corcia Philippe, Tazir Meriem, Camu William, Magdelaine Corinne, Latour Philippe, Biberon Julien, Guennoc Anne-Marie, Richard Laurence, Magy Laurent, Funalot Benoît, Vallat Jean-Michel
Service de Neurologie, CHU Poitiers, Université de Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.
Service de Neurologie, CHU Tours, 2 boulevard Tonnellé, 37044 Tours, France.
Neuromuscul Disord. 2014 Jun;24(6):524-8. doi: 10.1016/j.nmd.2014.03.014. Epub 2014 Apr 13.
Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases.
1A型遗传性运动感觉神经病（CMT1A）和遗传性压力易感性周围神经病（HNPP）均为与周围神经髓鞘异常相关的常染色体显性遗传病。CMT1A与外周髓鞘蛋白22（PMP22）基因重复有关，而HNPP则是由于17号染色体上PMP22基因缺失所致。尽管存在这一关键差异，但我们报告了3例携带1.4兆碱基CMT1A重复且临床表现不典型（电生理、临床或病理方面）的患者：1例10岁女孩神经活检发现腊肠样结构病变；1例26岁女性反复出现感觉异常，电生理检查显示有传导阻滞；1例46岁女性出现短暂性反复性神经麻痹，类似HNPP。这些病例突出了CMT1A临床表现的多样性以及CMT1A与HNPP（两者均与PMP22基因相关）之间的重叠，最终说明了遗传性运动感觉神经病基因型与表型相关性的复杂性。
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