Charcot-Marie-Tooth disease type 1B: Marked phenotypic variation of the Ser78Leu mutation in five Italian families

Acta Neurologica Scandinavica

Volumn 118, Issue 5, 2008, Pages 328-332

  Mazzeo, A ^a   Muglia, M ^b   Rodolico, C ^a   Toscano, A ^a   Patitucci, A ^b   Quattrone, A ^b,c   Messina, C ^a   Vita, G ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^c UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Charcot Marie Tooth disease; Early onset neuropathy; Late onset neuropathy; MPZ mutation

Indexed keywords

BIOLOGICAL MARKER; LEUCINE; MYELIN PROTEIN; SERINE;

ADOLESCENT; ADULT; ARTICLE; CHARCOT MARIE TOOTH DISEASE TYPE 1B; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; HUMAN; ITALY; MALE; MOLECULAR GENETICS; MUSCLE CRAMP; MYELIN PROTEIN ZERO GENE; ONSET AGE; OUTCOME ASSESSMENT; PARESTHESIA; PEDIGREE; PHENOTYPIC VARIATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; UNSTEADINESS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; ITALY; LEUCINE; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; PEDIGREE; PERIPHERAL NERVES; PHENOTYPE; POLYMORPHISM, GENETIC; SERINE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 53549100189     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2008.01021.x     Document Type: Article

References (32)

1. Lemke G, Lamar E, Patterson J. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1988 1 : 73 83.
2. Uyemura K, Asou H, Takeda Y. Structure and molecular biology of P0 protein. In : Martenson RE, ed. Myelin: biology and chemistry. Ann Arbor : CRC Press, 1992 481 508.
3. Schapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA. Crystal structure of the extacellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996 17 : 435 49.
4. Giese KP, Martini R, Lemke G, Soriano P, Schachner M. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 1992 71 : 565 76.
5. Warner LE, Hilz MJ, Appel SH et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996 17 : 451 60.
6. Nelis E, Haites N, Van Broecckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mut 1999 13 : 11 28.
7. Kochanski A. Mutations in the myelin protein zero result in a spectrum of Charcot-Marie-Tooth phenotypes. Acta Myologica 2004 23 : 6 9.
8. Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of myelin protein zero gene. Neurology 1998 50 : 1397 401.
9. Santoro L, Manganelli F, Di Maria E et al. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2004 75 : 262 5.
10. Kochanshi A. An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene. J Periph Nerv System 2004 9 : 1 2.
11. Shy ME, Blake J, Krajewski K et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005 64 : 1209 14.
12. Gabreels-Festen AA, Hoogendijk JE, Meijerink PH et al. Two divergent types of nerve pethology in patient with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 1996 47 : 761 5.
13. Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K. Axonal and demyelinating forms of the MPZ Thr124Met mutation. Acta Neurol Scand 2003 108 : 157 60.
14. Marques W, Hanna MG, Marques S, Sweeney MG, Thomas PK, Wood NW. Phenotypic variation of a new P0 mutation in genetically identical twins. J Neurol 1999 246 : 596 9.
15. De Jonghe P, Timmerman V, Ceuterik C et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenoype. Brain 1999 122 : 281 90.
16. Chapon F, Latour P, Diraison P, Schaeffer S, Vanderberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999 66 : 779 82.
17. Misu K, Yoshihara T, Shikama Y et al. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). J Neurol Neurosurg Psychiatry 2000 69 : 806 11.
18. Boerkoel CF, Takashima H, Garcia CA et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002 51 : 190 201.
19. Nelis E, Timmerman V, De Jonghe P et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Human Genet 1994 94 : 653 7.
20. Bort S, Nelis E, Timmerman V et al. Mutation analysis of the MPZ, PMP22 and Cx32 genes in Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies patients with Spanish ancestry. Hum Genet 1997 99 : 746 54.
21. Silander K, Meretoja P, Juvonen V et al. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat 1998 12 : 59 68.
22. Young P, Grote K, Kuhlenbaumer G et al. Mutation analysis in Charcot-Marie-Tooth disease type 1: point mutations in the MPZ gene and GJB1 gene cause comparable phenotypic heterogeneity. J Neurol 2001 248 : 410 15.
23. Latour P, Blanquet F, Nelis E et al. Mutations in the myelin zero protein gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 1995 6 : 50 4.
24. Huehne K, Benes V, Thiel C et al. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GBJ1. Hum Mutat 2002 572 : 1 5.
25. Fabrizi GM, Taioli F, Cavallaro T et al. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. Acta Neuropathol 2000 100 : 299 304.
26. Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study. Ann Neurol 1997 41 : 463 9.
27. Senderek J, Ramaekers VT, Zerres K, Rudnik-Schoneborn S, Schroder JM, Bergmann C. Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain. J Neurol Sci 2001 192 : 49 51.
28. Nadeau JH. Modifier genes in mice and human. Nat Rev Genet 2001 2 : 165 74.
29. Nadeau JH. Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 2003 13 : 290 5.
30. Szabo A, Zuchner S, Siska E, Mechler F, Molnar MJ. Marked phenotypic variation in a family with a new myelin protein zero mutation. Neuromusc Disord 2005 15 : 760 3.
31. Shy ME, Jàni A, Krajewski K et al. Phenotypic clustering in MPZ mutations. Brain 2004 127 : 371 84.
32. Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 2006 242 : 55 66.