title: Brain white matter lesions in an italian family with charcot-marie-tooth disease.
abstract: Type 1A, the most common form of Charcot-Marie-Tooth (CMT1A) disease, is characterized by demyelination of the peripheral nervous system. So far, only a few cases of the disease with concomitant brain white matter lesions have been described. We report an Italian family with CMT1A disease, consisting of the proband and 4 affected members, presenting with concomitant brain white matter lesions at magnetic resonance imaging. The association is particularly fascinating and might depend on an autoimmune mechanism, not yet clarified.
authors.affiliation: Department of Neurology, University of L'Aquila, L'Aquila, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Sacco
authors.forename: Rocco
authors.initials: R
authors.lastname: Totaro
authors.forename: Stefano
authors.initials: S
authors.lastname: Bastianello
authors.forename: Carmine
authors.initials: C
authors.lastname: Marini
authors.forename: Antonio
authors.initials: A
authors.lastname: Carolei
mesh_terms: D000328:Adult; D001930:Brain Injuries / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D010375:Pedigree