Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 77; no. 4; pp. 534 - 537
• Main Authors: Bienfait, H M E, Faber, C G, Baas, F, Gabreëls-Festen, A A W M, Koelman, J H T M, Hoogendijk, J E, Verschuuren, J J, Wokke, J H J, de Visser, M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.2006; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adult; Age; Age of Onset; Aged; Ankle; Axons - pathology; Biological and medical sciences; Biopsy; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - epidemiology; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; CMT; Cohort Studies; Connexins - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dejerine-Sottas syndrome; Demyelinating Diseases - pathology; Deoxyribonucleic acid; Diseases of striated muscles. Neuromuscular diseases; DNA; DNA Mutational Analysis; DSS; Female; Foot diseases; Gap Junction beta-1 Protein; Genes; Genotype & phenotype; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; Median Nerve - physiopathology; Medical sciences; Middle Aged; MNCV; motor nerve conduction velocity; MPZ; Mutation; Myelin P0 Protein - genetics; myelin protein zero gene; Myelin Proteins - genetics; Neural Conduction - physiology; Neurology; Pain; Patients; Pedigree; Phenotype; Phosphoproteins - genetics; Point Mutation; Polymorphism, Single-Stranded Conformational; Proteins; Short Report; single strand confirmation polymorphism analysis; SSCP; Sural Nerve - pathology; Sural Nerve - physiopathology; Ulnar Nerve - physiopathology; Neuromuscular diseases; Phenotype; Nervous system diseases; Charcot Marie Tooth disease; Myelin; Central nervous system disease; Degenerative disease; Mutation; Spinal cord disease; Protein; Genetic disease
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2005.073437

A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.