Abstract
Objective To study the clinical, electrophysiological, athological and genomic features of hereditary neuropathy with liability to pressure palsies (HNPP) and increase the understanding and diagnostic level of this disease. Methods Eleven patients with HNPP, met Gouider diagnostic criteria and admitted to our hospital from March 1999 to December 2014, accepted detailed clinical examinations, electromyogram, sural nerve biopsies. Multiplex ligation-dependent probe amplification was used to detect peripheral myelinprotein 22(PMP22) gene deletion on chromosome 17P11.2. Results Eight patients came from two families and it was consistent with automsomal dominant inheritance. Age at onset was on teen-agers. Clinical manifestations were characterized by recurrent mononeruopathies. Symptoms often disappeared spontaneously after a few days or a few months. Nerve conduction studies showed a sensori-motor demyelinating polyneuropathy with conduction abnormalities preferentially localized at common entrapment sites. The nerve biopsy showed the presence of some large thickened myelinated fibers, but the axons were normal. Gene mutation analysis showed that two patients had large fragment tandem deletions containing PMP22. Conclusions Although HNPP is concerned with heredity, there are also some sporadic cases to be found. Electrophysiologic examination is an important screen method. The definitive diagnosis is dependent on PMP22 mutation detection. Key words: Herediary neuropathy with liability to pressure palsy; Nerve electrophysiology; Gene mutation
Published Version
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