title: X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
abstract: Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction protein beta1 (GJB1) gene. GJB1 is a gap junction protein expressed in various cells including oligodendrocytes, astrocytes and myelinating schwann cells. Here, we report a female case of CMTX with a GJB1 mutation. The patient was severely clinically affected and exhibited both the features of demyelination and axonopathy. This is the first female patient with CMTX who showed permanent atypical scattered lesions in cerebral white matter of the brain on T2-weighted magnetic resonance images (MRI), which is very rare. The existence of a female patient with severe clinical symptoms may show that gain of function mechanism also leads to the disorders seen in these patients.
authors.affiliation: Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo.
authors.forename: Rehana
authors.initials: R
authors.lastname: Basri
authors.forename: Ichiro
authors.initials: I
authors.lastname: Yabe
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Soma
authors.forename: Masaaki
authors.initials: M
authors.lastname: Matsushima
authors.forename: Sachiko
authors.initials: S
authors.lastname: Tsuji
authors.forename: Hidenao
authors.initials: H
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D017630:Connexins / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D050172:Genes, X-Linked; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011401:Promoter Regions, Genetic; D012720:Severity of Illness Index
chemical_list: D017630:Connexins