Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.
- Author:
Seung Min KIM
1
;
Ki Wha CHUNG
;
Byung Ok CHOI
;
Eui Soo YOON
;
Jung Young CHOI
;
Kee Duk PARK
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, College of Medicine, Yonsei University, Seoul 120-752, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Charcot-Marie-Tooth disease;
hereditary motor and sensory neuropathies;
hereditary sensory and autonomic neuroplathies;
genotype;
microsatellite repeats
- MeSH:
Adolescent;
Adult;
Age of Onset;
Aged;
Charcot-Marie-Tooth Disease/genetics;
Child;
Child, Preschool;
*Chromosome Deletion;
*Chromosomes, Human, Pair 17;
DNA Mutational Analysis;
Electrophysiology;
Female;
Genotype;
Hereditary Motor and Sensory Neuropathies/*genetics/pathology/physiopathology;
Humans;
Korea;
Male;
Microsatellite Repeats;
Middle Aged;
Paralysis/*genetics/pathology/physiopathology;
Pedigree;
Phenotype;
Research Support, Non-U.S. Gov't;
Sural Nerve/pathology/physiopathology
- From:Experimental & Molecular Medicine
2004;36(1):28-35
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, and to determine the clinical, electrophysiological and morphological aspects specifically associated with this deletion in HNPP patients. By genotyping six microsatellite markers (D17S921, D17S955, D17S1358, D17S839, D17S122 and D17S261), HNPP with the deletion was observed in 79% (19 of 24) of HNPP families. Nerve conduction studies were performed in 35 HNPP patients from these 19 families. The observed HNPP deletion frequency in Koreans is consistent with findings in other populations. Disease onset occurred at a significantly earlier age in patients with recurrent pressure palsies than in those with a single attack (P<0.01). Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities that were worse over the common entrapment sites, regardless of the clinical manifestations. A long duration of compound muscle action potentials without a conduction block or a temporal dispersion is a characteristic of this disease. A sural nerve biopsy with teasing was performed in four patients, and tomacula of the myelin sheath was found in 56.4%. Our findings appear to support the existence of a phenotype/genotype correlation in HNPP patients of Korean ancestry with the deletion, and suggest that HNPP patients with earlier symptom onset face an increased chance of having recurrent attacks.
