Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
作者： Fiore Manganelli , Stefano Tozza , Chiara Pisciotta , Emilia Bellone , Rosa Iodice
DOI: 10.1111/JNS.12092
关键词: Genetics 、 Epidemiology 、 Population 、 Cohort 、 Mutation 、 Gene 、 Disease 、 Gene duplication 、 Biology 、 SH3TC2
摘要: The objective of this study is to assess the genetic distribution Charcot-Marie-Tooth (CMT) disease in Campania, a region Southern Italy. We analyzed cohort 197 index cases and reported type frequency mutations for whole CMT population each electrophysiological group (CMT1, CMT2, hereditary neuropathy with susceptibility pressure palsies [HNPP]) familial isolated cases. Genetic diagnosis was achieved 148 patients (75.1%) higher success rate HNPP CMT1 than CMT2. Only four genes (PMP22, GJB1, MPZ, GDAP1) accounted 92% all genetically confirmed In CMT1, PMP22 duplication most common mutation while second gene order MPZ SH3TC2 GJB1 frequent mutated GDAP1 almost 3/4 defined CMT2 patients. first HNPP, majority harbored deletion. novelty our data relatively high demyelinating axonal forms, respectively. These epidemiological can help panel design patients' population.
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