Chance P F, Lensch M W, Lipe H, Brown R H, Brown R H, Bird T D
Division of Neurology Research, Children's Hospital of Philadelphia, PA 19104.
Neurology. 1994 Dec;44(12):2253-7. doi: 10.1212/wnl.44.12.2253.
Hereditary neuralgic amyotrophy with predilection for the brachial plexus (HNA) and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant disorders associated with episodic, recurrent brachial neuropathies. HNPP is associated with a deletion or abnormal structure of the PMP22 gene on chromosome 17p11.2-12. The genetic locus for HNA is unknown. To address the possibility that HNPP and HNA might be identical disorders or allelic variations at the same locus, we investigated three HNA pedigrees with markers from the HNPP region. We did not find the 17p11.2-12 deletion associated with HNPP, nor an abnormality in PMP22 structure with HNA. This analysis provides genetic evidence, in addition to that suggested by the clinical, electrophysiologic, and pathologic differences, that HNA and HNPP are distinct disorders.
遗传性臂丛神经痛性肌萎缩（HNA），好发于臂丛神经，以及遗传性压力易感性神经病（HNPP），是与发作性、复发性臂丛神经病相关的常染色体显性遗传病。HNPP与17号染色体p11.2 - 12区域的PMP22基因缺失或结构异常有关。HNA的基因位点尚不清楚。为了探讨HNPP和HNA可能是同一疾病或同一基因座上等位基因变异的可能性，我们用来自HNPP区域的标记物研究了三个HNA家系。我们未发现与HNPP相关的17p11.2 - 12缺失，也未发现HNA存在PMP22结构异常。除临床、电生理和病理差异所提示的证据外，该分析提供了遗传学证据，表明HNA和HNPP是不同的疾病。
