Clinical, Electrophysiological and Pathological Characteristics in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) with Chromosome 17p11.2-p12 Deletion

J Korean Neurol Assoc > Volume 19(3); 2001 > Article

Journal of the Korean Neurological Association 2001;19(3): 251-259.

편측 안면경련의 미세혈관감압술시 수술 중 전기생리학적 및 병리학적 특성

김승민, 최병옥 선우일남*이진성†성기범‡

연세대학교 의과대학 신경과학교실*,소아과학교실†,포천중문 의과대학 신경과학교실 순천향대학교 의과대학 신경과학교실‡

Clinical, Electrophysiological and Pathological Characteristics in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) with Chromosome 17p11.2-p12 Deletion

Seung-Min Kim, M.D.*, Byung-Ok Choi, M.D., Il-Nam Sunwoo, M.D.,*Jin-Sung Lee, M.D.†, Ki-Bum Sung, M.D.‡

"Department of Neurology*, and Pediatrics† , College of Medicine Yonsei University Department of Neurology, College of Medicine Pochon CHA University Department of Neurology, College of Medicine Soonchunhyang University‡"

Abstract

"Background : Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder charac-terized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. A 1.5-Mb deletion in chromosome 17p11.2- p12 is present in the majority but not all cases of HNPP. The aim of the present study was to evaluate the clinical, elec-trophysiological and morphological aspects of HNPP patients associated with chromosome 17p11.2-p12 deletion. Methods : To detect the presence of the deletion, the DNA of the patients was analyzed with pVAW409R3 (D17S122). An electrophysiological study was done in all patients. Sural nerve biopsy with teasing was done in three patients. Results : DNA analysis and electrophysiological tests revealed the deletion in 8 families and 16 patients. Nerve conduc-tion studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities especially worse over the common entrapment sites, regardless of clinical manifestations. The long duration of compound muscle and nerve action potentials without conduction blocks or dispersion is characteristic of patients with HNPP. The tomacula of myelin sheaths was found on sural nerve teasing. Conclusions : We report the clinical, electrophysiological and mor-phological aspects of the Korean HNPP patients associated with chromosome 17p11.2-p12 deletion. J Korean Neurol Assoc 19(3):251~259, 2001 Key Words : Hereditary neuropathy with liability to pressure palsies (HNPP), Chromosome 17p11.2-p12 deletion, Clinical, Electrophysiological, Morphological aspect"