A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia.
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. mluigetti@gmail.com
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Luigetti
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Modoni
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Renna
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Silvestri
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Ricci
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Montano
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Tasca
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Papacci
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Monforte
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Conte
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Pomponi
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Sabatelli
D000200:Action Potentials / Q000502:physiology; D000328:Adult; D001369:Axons / Q000473:pathology; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood*; D003933:Diagnosis; D004576:Electromyography; D005190:Family; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D009154:Mutation / Q000502:physiology*; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000503:physiopathology; D011984:Sensory Receptor Cells / Q000502:physiology
D003062:Codon; D018993:Myelin P0 Protein; D003402:Creatine Kinase