Gouider R, LeGuern E, Emile J, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Neurology. 1994 Dec;44(12):2250-2. doi: 10.1212/wnl.44.12.2250.
Hereditary neuralgic amyotrophy (HNA) is an autosomal disease characterized by painful episodes of brachial palsy. The presence of tomacula in some patients suggested that HNA might be genetically related to hereditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region containing this gene. In a clinical, electrophysiologic, and molecular study of two families with HNA, we show that the PMP22 gene is not deleted, duplicated, or mutated in HNA and that the disease is not linked to any other gene in the HNPP deleted region. We conclude that HNA and HNPP are distinct genetic entities.
遗传性神经痛性肌萎缩（HNA）是一种常染色体疾病，其特征为臂丛神经麻痹的疼痛发作。部分患者存在腊肠样膨大提示HNA可能与遗传性压力易感性周围神经病（HNPP）存在遗传关联，HNPP由PMP22基因的点突变或包含该基因的区域缺失所致。在一项对两个HNA家系的临床、电生理和分子研究中，我们发现HNA患者的PMP22基因未发生缺失、重复或突变，且该疾病与HNPP缺失区域的任何其他基因均无关联。我们得出结论，HNA和HNPP是不同的遗传实体。
