遗传性压力易感性周围神经病（Hereditary neuropathy with liability to pressure palsies,HNPP）是由人类周围髓鞘蛋白22（peripheral myelin protein 22,PMP22）基因缺失突变或点突变引起的一种少见的常染色体显性遗传性周围神经病。...遗传性压力易感性周围神经病（Hereditary neuropathy with liability to pressure palsies,HNPP）是由人类周围髓鞘蛋白22（peripheral myelin protein 22,PMP22）基因缺失突变或点突变引起的一种少见的常染色体显性遗传性周围神经病。HNPP多于20～30岁起病,以易卡压部位神经受到轻微牵拉或压迫后反复出现受累神经支配区域的麻木和无力为主要临床特征。展开更多
A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial g...A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.展开更多
遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)是由17p11.2上的PMP22基因突变引起的常染色体显性遗传性周围神经病。其以反复发作性无痛性单神经病为典型特征,多首发于10~30岁。神经电...遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)是由17p11.2上的PMP22基因突变引起的常染色体显性遗传性周围神经病。其以反复发作性无痛性单神经病为典型特征,多首发于10~30岁。神经电生理检查常表现为广泛性多发性周围神经潜伏期延长,传导速度减慢,易卡压部位尤其明显。周围神经腊肠样改变是其特征性病理改变,基因检测可明确诊断。在临床上因广大神经科医师对神经系统遗传病的认知缺失,常造成遗传性压力易感性周围神经病的漏诊和误诊。本文报道经基因确诊的遗传性压力易感性周围神经病一家系,对其家系成员的临床表现进行简要描述,希望能提高大家对此病的认识。展开更多
文摘遗传性压力易感性周围神经病（Hereditary neuropathy with liability to pressure palsies,HNPP）是由人类周围髓鞘蛋白22（peripheral myelin protein 22,PMP22）基因缺失突变或点突变引起的一种少见的常染色体显性遗传性周围神经病。HNPP多于20～30岁起病,以易卡压部位神经受到轻微牵拉或压迫后反复出现受累神经支配区域的麻木和无力为主要临床特征。
文摘周围髓鞘蛋白22基因(peripheral myelin protein-22,PMP22)相关性周围神经病是一组以PMP22基因突变导致的遗传性周围神经病,不同的突变类型是导致不同的临床表型的关键,大致可以分为五类:PMP22片段重复突变导致腓骨肌萎缩症1A型(Charcot-Marie-Tooth type-1A,CMT1A),PMP22缺失突变所致遗传性压迫易感性神经病(hereditary neuropathy with liability to pressure palsies,HNPP),PMP22基因点突变可引起CMT1E以及Dejerine-Sottas综合征(DSS)、Roussy-Levy综合征(RLS)等。本文就PMP22基因相关性周围神经病的临床及遗传学特点做一综述。
文摘A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.
文摘遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)是由17p11.2上的PMP22基因突变引起的常染色体显性遗传性周围神经病。其以反复发作性无痛性单神经病为典型特征,多首发于10~30岁。神经电生理检查常表现为广泛性多发性周围神经潜伏期延长,传导速度减慢,易卡压部位尤其明显。周围神经腊肠样改变是其特征性病理改变,基因检测可明确诊断。在临床上因广大神经科医师对神经系统遗传病的认知缺失,常造成遗传性压力易感性周围神经病的漏诊和误诊。本文报道经基因确诊的遗传性压力易感性周围神经病一家系,对其家系成员的临床表现进行简要描述,希望能提高大家对此病的认识。
