TITLE

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain

AUTHOR(S)
Laurà, Matilde; Milani, Micaela; Morbin, Michela; Moggio, Maurizio; Ripolone, Michela; Jann, Stefano; Scaioli, Vidmer; Taroni, Franco; Pareyson, Davide
PUB. DATE
November 2007
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Nov2007, Vol. 78 Issue 11, p1263
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMI) type 1 B, Déjèrine-Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMI (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.
ACCESSION #
27560551

 

Related Articles

  • Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Ogino, Shuji; Gao, Sizhen; Leonard, Debra G B; Paessler, Michele; Wilson, Robert B // European Journal of Human Genetics;Mar2003, Vol. 11 Issue 3, p275 

    Most carriers of autosomal recessive spinal muscular atrophy (SMA) have only one copy of SMN1 because of SMN1 gene deletions or gene conversions from SMN1 to SMN2, which has only one base difference in coding sequence from SMN1. Using SMN gene dosage analysis, we determined the copy numbers of...

  • Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Grohmann, Katja; Schuelke, Markus; Diers, Alexander; Hoffmann, Katrin; Lucke, Barbara; Adams, Coleen; Bertini, Enrico; Leonhardt-Horti, Hajnalka; Muntoni, Francesco; Ouvrier, Robert; Pfeufer, Arne; Rossi, Rainer; Van Maldergem, Lionel; Wilmshurst, Jo M.; Wienker, Thomas F.; Sendtner, Michael; Rudnik-Schöneborn, Sabine; Zerres, Klaus; Hübner, Christoph // Nature Genetics;Sep2001, Vol. 29 Issue 1, p75 

    Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1. Its product is involved in various cellular processes, including cytoplasmic assembly of spliceosomal small nuclear ribonucleoproteins, pre-mRNA processing and activation of transcription. Spinal muscular...

  • Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children. Ibrahim, Shahnaz; Moatter, Tariq; Saleem, Ali Faisal // Neurology India;May/Jun2012, Vol. 60 Issue 3, p294 

    Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented...

  • Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Alías, Laura; Bernal, Sara; Fuentes-Prior, Pablo; Barceló, María Jesus; Also, Eva; Martínez-Hernández, Rebeca; Rodríguez-Alvarez, Francisco J.; Martín, Yolanda; Aller, Elena; Grau, Elena; Peciña, Ana; Antiñolo, Guillermo; Galán, Enrique; Rosa, Alberto L.; Fernández-Burriel, Miguel; Borrego, Salud; Millán, José M.; Hernández-Chico, Concepción; Baiget, Montserrat; Tizzano, Eduardo F. // Human Genetics;Feb2009, Vol. 125 Issue 1, p29 

    Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using PCR-RFLP, SMN gene dosage analysis, linkage studies, long-range PCR and direct sequencing. Our systematic approach allowed us to complete...

  • Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Miltenberger-Miltenyi, Gabriel; Schwarzbraun, Thomas; Löscher, Wolfgang N.; Wanschitz, Julia; Windpassinger, Christian; Duba, Hans-Christoph; Seidl, Rainer; Albrecht, Gerhard; Weirich-Schwaiger, Helga; Zoller, Heinz; Utermann, Gerd; Auer-Grumbach, Michaela; Janecke, Andreas R. // European Journal of Human Genetics;Sep2009, Vol. 17 Issue 9, p1154 

    Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction β1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT). A large number of mutations in these genes are listed in...

  • Intron 7 conserved sequence elements regulate the splicing of the SMN genes. Gladman, Jordan T.; Chandler, Dawn S. // Human Genetics;Dec2009, Vol. 126 Issue 6, p833 

    Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. In humans there are two nearly identical SMN genes, SMN1 and SMN2. The SMN2 gene generates a truncated protein, due to a C to T nucleotide alteration in exon 7,...

  • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Monani, Umrao R.; Lorson, Christian L.; Parsons, D. William; Prior, Thomas W.; Androphy, Elliot J.; Burghes, Arthur H. M.; McPherson, John D. // Human Molecular Genetics;Jul99, Vol. 8 Issue 7, p1177 

    Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by mutations in the telomeric survival motor neuron 1 (SMN1) gene. Alterations within an almost identical copy gene, the centromeric survival motor neuron 2 (SMN2) gene...

  • Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. Sossi, Vittorio; Giuli, Anna; Vitali, Tiziana; Tiziano, Francesco; Mirabella, Massimiliano; Antonelli, Antonella; Neri, Giovanni; Brahe, Christina // European Journal of Human Genetics;Feb2001, Vol. 9 Issue 2, p113 

    Autosomal recessive spinal muscular atrophy (SMA) is a common motor neuron disease caused by absence or mutation in the survival motor neuron (SMN1) gene. SNM1 and a nearly identical copy, SMN2, encode identical proteins, but SMN2 only produces a little full length protein due to alternative...

  • Mutation in E1, the Ubiquitin Activating Enzyme, Reduces Drosophila Lifespan and Results in Motor Impairment. Hsiu-Yu Liu; Pfleger, Cathie M. // PLoS ONE;Jan2013, Vol. 8 Issue 1, p1 

    Neurodegenerative diseases cause tremendous suffering for those afflicted and their families. Many of these diseases involve accumulation of mis-folded or aggregated proteins thought to play a causal role in disease pathology. Ubiquitinated proteins are often found in these protein aggregates,...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics