Author/Editor		Leonardis, Lea; Zidar, Janez; Rautenstrauss, Bernd
Title		Specific genotypes can only partly explain the great variability in the Charcot-Marie-tooth 1A disease phenotype
Type		članek
Source		Acta Myol
Vol. and No.		Letnik 19
Publication year		2000
Volume		str. 61-8
Language		eng
Abstract		The most common genetic defect in the demyelinating type of Charcot-Marie-Tooth disease (CMT) is the duplication of 17p.11 2-12 (CMT1A), which usually results from on unequal DNA recombination inside the EcoRl/Sacl "hotspot". We analysed the impact of the specific genotypes (CMT1, CMT1A, CMT1 A "hotspot", and CMT1A patients from the same family) on the disease variability. Seventy-one CMT1 patients were examined electrophysiologically and clinically. The disease severity was found to vary markedly among CMT1 patients, but slightly less so among CMT1A and CMT1A "hotspot" patients. The disease severity also differed significantly among patients from the same family CMT1A patiens were less affected than non-CMT1A patients. CMT1A "hotspot" patients were more affected than "non-hotspot" patients. A positive correlation was found between disease duration and phenotype severity Disease duration and genotype seem to only minimally increase phenoypical variability. Other genetic and environmental factors must be involved in the expression of the disease.
Descriptors		CHARCOT-MARIE DISEASE NEURAL CONDUCTION MUSCLE CONTRACTION GENOTYPE PHENOTYPE MEDIAN NERVE ULNAR NERVE PERONEAL NERVE VARIATION (GENETICS) FOREARM ACTION POTENTIALS MUSCLE WEAKNESS BLOTTING, SOUTHERN POLYMERASE CHAIN REACTION MICROSATELLITE REPEATS