title: Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease.
abstract: In X-linked hereditary demyelinating neuropathies (CMTX), caused by mutations in Connexin 32, mild subclinical CNS involvement is not unusual. We present a young male patient suffering from genetically proven CMTX who presented with permanent bilateral corticospinal tract hyperintensities in cranial MRI -- a finding previously described to be characteristic for amyotrophic lateral sclerosis. MRI seems to be able to visualize corticospinal tract abnormalities, even if subclinical, in CMTX.
authors.affiliation: Department of Neurology, University of Ulm, Ulm, Germany. jan.kassubek@medizin.uni-ulm.de
authors.forename: Jan
authors.initials: J
authors.lastname: Kassubek
authors.forename: Volker
authors.initials: V
authors.lastname: Bretschneider
authors.forename: Anne-Dorte
authors.initials: AD
authors.lastname: Sperfeld
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D019054:Evoked Potentials, Motor / Q000235:genetics; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction / Q000235:genetics; D020335:Paraparesis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D011712:Pyramidal Tracts / Q000473:pathology* / Q000503:physiopathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein