title: Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.
abstract: Charcot-Marie-Tooth type 1C disease (CMT1C) is a rare form of hereditary demyelinating neuropathy caused by mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-) gene. CMT1C disease was mapped to chromosome 16p12-p 13.3. To date only a few mutations in the LITAF gene have been reported. Due to a small group of CMT1C reported patients, the phenotype of CMT1C is poorly characterized. CMT1C disease is a pure demyelinating neuropathy limited to the peripheral nervous system with a mild clinical course, manifesting without any additional symptoms.   To the best of our knowledge, in this study, for the first time we present a three generational CMT1C family in which in the proband, CMT1C disease coexists with central demyelination fulfilling criteria of primary progressive multiple sclerosis (PPMS). The coexistence of PPMS and CMT1C in one family may not result from a common pathogenetic trait, however only in the proband with central demyelination and CMT1C we have detected a -308G>A sequence variant in the promoter of the TNF-α gene.
authors: Department of Neurology, Medical University of Warsaw, Poland.
authors: Anna
authors: A
authors: Potulska-Chromik
authors: Elena
authors: E
authors: Sinkiewicz-Darol
authors: Anna
authors: A
authors: Kostera-Pruszczyk
authors: Hanna
authors: H
authors: Drac
authors: Dagmara
authors: D
authors: Kabzińska
authors: Beata
authors: B
authors: Zakrzewska-Pniewska
authors: Marek
authors: M
authors: Gołębiowski
authors: Andrzej
authors: A
authors: Kochański
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020528:Multiple Sclerosis, Chronic Progressive / Q000150:complications* / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D060888:Real-Time Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
chemical_list: C118738:LITAF protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors; D014409:Tumor Necrosis Factor-alpha