Nerve Conduction Study of Hereditary Neuropathy with Liability to Pressure Palsies(HNPP) with Chromosome 17p11.2-p12 Deletion

J Korean Assoc EMG Electrodiagn Med 1999;1(1):13-18.
Published online January 1, 1999.

Abstract

Objectives : Hereditary neuropathy with liability to pressure palsies(HNPP) is a peripheral nerve disorder characterized by aytosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings(tomacula) of myelin sheathsin nerve biopsy. A 1.5Mb deletion in chromosome 17p11.2-12 is present in the majority of HNPP. The aim of the present study is to characterize the nerve conduction studies in HNPP with chromosome 17p11.2-p12 deletion. Methods: The DNA of the patients have been analyzed with pVAW409R3(D17S122) by PCR, and 9 patients in 6 families showed the deletion og chromosome 17p11.2-p12. the nerve conduction studies of these 9 cases were reviewed. Results & Conclusion: Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities, especally worse over the common entrapment sites, regardless of the clinical manifestations. Long duration of compound muscle action potentials without conduction block or dispersion is characteristic.

Key Words: Hereditary neuropathy with liability to pressure palsies(HNPP), Chromosome 17p11.2-p12, Deletion, Nerve conduction study