title: Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy.
abstract: The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot-Marie-Tooth disease type 1B (CMT1B). Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. Two sisters aged 41 and 35 years complained of neck pain and presented only pes cavus or deep-tendon hyporeflexia. In both of them magnetic resonance imaging revealed non-enhancing hypertrophy of spinal roots misdiagnosed as neurofibromatosis; neurophysiology disclosed a demyelinating neuropathy and addressed the correct molecular diagnosis. This report adds new data concerning the clinical presentations of MPZ mutations.
authors.affiliation: Department of Neurology San Martino's Hospital, Belluno, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Marchini
authors.forename: Sandro Zambito
authors.initials: SZ
authors.lastname: Marsala
authors.forename: Matteo
authors.initials: M
authors.lastname: Bendini
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
authors.forename: Incoronata Renata
authors.initials: IR
authors.lastname: Lonigro
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D006984:Hypertrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D019547:Neck Pain / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D010375:Pedigree; D035781:Siblings; D013126:Spinal Nerve Roots / Q000473:pathology
chemical_list: D018993:Myelin P0 Protein