Divergent phenotypes of Charcot-Marie-Tooth disease: Demyelinating with childhood onset and axonal with late onset and slow pupillary reaction, resulting from different myelin protein zero (MPZ, P0) gene mutations;Divergentní fenotypy choroby Charcot-Marie-Tooth: Demylinizační s infantilním začátkem a axonální s pozdním začátkem a zpomalenou fotoreakcí následkem různých mutací myelin protein zero (MPZ, P0) genu

Ceska a Slovenska Neurologie a Neurochirurgie

Volumn 67, Issue 5, 2004, Pages 321-329

  Seeman, Pavel ^a   Mazanec, R ^a   Horacek O ^a   Svobodova V ^b   Ridzon P ^b   Benes III V ^a   Malikova M ^c   Sixtova K ^d   Siskova D ^d   Spacek J ^e   Rautenstrauss, B ^f  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

^d IPVZ   (Czech Republic)

^e Fakultní Nemocnice UK ^*  (Czech Republic)

^f UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Charcot Marie Tooth; CMT; D jerine Sottas; HMSN III; MPZ; Myelin protein zero; P0

Indexed keywords

ARGININE; CYSTEINE; METHIONINE; MYELIN PROTEIN; THREONINE;

ARTICLE; CHILDHOOD; CZECH REPUBLIC; DEMYELINATING DISEASE; DISEASE COURSE; DISEASE SEVERITY; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTHER; NERVE CONDUCTION; NERVE FIBER; ONSET AGE; PARENT; PERIPHERAL NERVE; PHENOTYPE; POLYNEUROPATHY; PUPIL REFLEX;

EID: 7944220938     PISSN: 12107859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy, 3rd ed. Philadelphia: W. B. Saunders Company; 1993. p. 1094-1136.
2. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259-280.
3. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, et al. Demyelinating and axonal features Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003; 126: 134-151.
4. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980; 17: 329-336.
5. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003; 4: 714-726.
6. Nelis E, Van Broeckhoven C. Estimation of mutation frequencies in Charcot-Marie-Tooth disease type I and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 6: 25-33.
7. Seeman P, Mazanec R, Hrušáková Š, Čtvrtečková M, Rašková D, Padě rová K, et al. Charcot-Marie-Tooth gonosomálně dominantní typ (CMTX1) - první nálezy mutací v genu pro connexin 32 v České republice. Čes a slov Neurol Neurochir 2000; 4: 219-225.
8. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas and congenital hypomyelination. Neuron 1996; 17: 451-460.
9. Seeman P, Cíbochová R, Beneš V Jr, Loefgren A. Kongenitální hypomyelinizace v souvislosti s de-novo mutací v genu pro periferní myelin protein 22 - první prokázaný případ v Č eské republice a přehled literatury. Čes a slov Neurol Neurochir 2002; 3: 206-212.
10. Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perpective. Lancet Neurology 2002; 1: 110-118.
11. Nelis E, Haites N, Van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 1999; 13: 11-28.
12. Marossu MG, Vaccargiu S, Marossu G, Vanelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998; 50: 1397-1401.
13. De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999; 122: 281-290.
14. Greenfield S, Brostoff S, Eylar EH, Morell P. Protein composition of myelin of the peripheral nervous system. J Neurochem 1973; 20: 1207-1216.
15. Suter U, Scherer S. Disease mechanism in inherited neuropathies. Nat Rev Neurosci 2003; 4: 714-726.
16. Roa B, Warner L, Garcia C, Russo D, Lovelace R, Chance PE, et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mut 1996; 7: 36-45.
17. Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martinez A, Martinez F, et al. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Carcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 1997; 99: 746-754.
18. Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, et al. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of italian families. Hum Mut 2001; 18: 32-41.
19. Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, Gabreels FJ, Bolhuis PA, van Beersum S, et al. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 1996; 47: 761-765.
20. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999; 66: 779-782.
21. Inherited Peripheral Neuropathies Mutation Database. Available from: URL: http://molgen-www.uia.ac.be/CMTMutations
22. Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, et al. Charcot-Marie-Tooth disease: a noveITyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within family. Neurogeneties 2003; 4: 191-197.
23. Seeman P, Mazanec R, Zidar J, Hrusakova S, Ctvrteckova M, Rautenstrauss B. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. Int J Mol Med 2000; 6: 421-426.
24. Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorpisms in the P0 gene. Hum Genet 1994; 94: 653-657.
25. Rouger H, LeGuern E, Goudier R, Tardieu S, Birouk N, Gugenheim M, et al. High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. Am J Hum Genet 1996; 58: 638-641.
26. Lagueny A, Latour P, Vital A, Rajabally Y, Le Masson G, Ferrer X, et al. Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. Neuromusc Disord 1999; 9: 361-367.
27. Komiyama A, Ohnisi A, Izawa K, Yamamori S, Ohashi H, Hasegawa, O. De-novo mutation (Arg98Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B J Neurol Sci 1997; 149: 103-109.
28. Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nashima K. Axonal and demyelinating forms of the MPZ Thr124Met mutation. Acta Neurol Scand 2003; 108: 157-160.