Saint-Lézer A, Solé G, Ribeiro E, Latour P, Mercié P, Longy-Boursier M
Service de médecine interne et maladies tropicales, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burguet, 33000 Bordeaux, France.
Rev Neurol (Paris). 2012 Apr;168(4):367-70. doi: 10.1016/j.neurol.2011.09.010. Epub 2012 Mar 3.
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is a genetically and clinically heterogeneous group of disorders of the peripheral nervous system. Mutations in multiple genes are currently known. We report an original case of CMT associated with chronic neutropenia in a patient with a K562del mutation in the dynamin 2 (DNM2) gene in a patient presenting with alterated cognitive function. Associated manifestations may guide molecular study.
夏科-马里-图思(CMT)病或遗传性运动和感觉神经病是一组在遗传和临床方面具有异质性的周围神经系统疾病。目前已知多个基因存在突变。我们报告了一例CMT的原始病例,该患者患有慢性中性粒细胞减少症,其动力蛋白2(DNM2)基因存在K562del突变,且伴有认知功能改变。相关表现可能会为分子研究提供指导。