Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

Journal of the Peripheral Nervous System

Volumn 15, Issue 4, 2010, Pages 334-344

  Sivera, Rafael ^a   Espinõs, Carmen ^b   Vílchez, Juan J ^a,c   Mas, Fernando ^a,c   Martínez Rubio, Dolores ^b,d   Chumillas, María José ^a,c   Mayordomo, Fernando ^c   Muelas, Nuria ^a,c   Bataller, Luis ^a,c   Palau, Francesc ^b,d   Sevilla, Teresa ^a,c  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

ADCMT; Charcot Marie Tooth disease; CMT2K; GDAP1 mutations

Indexed keywords

ADULT; ANKLE; ARTICLE; BABINSKI REFLEX; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ARGININE; AXONS; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENES, DOMINANT; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; TRYPTOPHAN; YOUNG ADULT;

EID: 78650804415     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2010.00286.x     Document Type: Article

References (34)

1. Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K, (2009). Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 54: 94-97.
2. Ammar N, Neils E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P, (2003). Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord 13: 720-728.
3. Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O, (2003). Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord 13: 341-346. (Pubitemid 36962702)
4. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J, (2007). Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 27: 422-430.
5. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM, (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30: 21-22.
6. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P, (1997). Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120: 813-823.
7. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR, (2003). CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 53: 400-405.
8. Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carriere JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C, (2009). Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 66: 1511-1516.
9. Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, (2009). Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10: 145-150.
10. Cavallaro T, Ferrarini M, Taioli F, Zimon M, De Jonghe P, Jordanova A, Fabrizi GM, (2009). Autosomal dominant Charcot-Marie-Tooth disease type 2 associated with GDAP1 gene. Third International Charcot-Marie-Tooth Consortium Meeting, Antwerpen, Belgium.
11. Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski JR, Vilchez JJ, Espinos C, Palau F, (2005). Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 42: 358-365.
12. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO, (2006). Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129: 2103-2118.
13. Chung KW, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park KD, Choi KG, Choi IS, Choi BO, (2008a). A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. J Hum Genet 53: 360-364.
14. Chung KW, Suh BC, Shy ME, Cho SY, Yoo JH, Park SW, Moon H, Park KD, Choi KG, Kim S, Kim SB, Shim DS, Kim SM, Sunwoo IN, Choi BO, (2008b). Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord 18: 610-618.
15. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F, (2002). The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30: 22-25.
16. Detmer SA, Chan DC, (2007). Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J Cell Biol 176: 405-414.
17. Fleckenstein JL, Watumull D, Conner KE, Ezaki M, Greenlee RG Jr, Bryan WW, Chason DP, Parkey RW, Peshock RM, Purdy PD, (1993). Denervated human skeletal muscle: MR imaging evaluation. Radiology 187: 213-218.
18. Gallardo E, Garcia A, Combarros O, Berciano J, (2006). Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 129: 426-437.
19. Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM, (2009). The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 19: 264-269.
20. Lathrop GM, Laouel JM, (1984). Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36: 460-465.
21. May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ, (2000). Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls. Radiographics 20. Spec No:S295-315.
22. Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T, Pareyson D, Taroni F, (2009). Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. Neuromuscul Disord 19: 476-480.
23. Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA, (2008). Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 70: 1678-1681.
24. Niemann A, Ruegg M, La Padula V, Schenone A, Suter U, (2005). Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170: 1067-1078.
25. Niemann A, Wagner KM, Ruegg M, Suter U, (2009). GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 36: 509-520.
26. Pareyson D, Marchesi C, (2009). Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8: 654-667.
27. Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F, (2005). GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 14: 1087-1094.
28. Pedrola L, Espert A, Valdes-Sanchez T, Sanchez-Piris M, Sirkowski EE, Scherer SS, Farinas I, Palau F, (2008). Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. J Cell Mol Med 12: 679-689.
29. Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Zuchner S, De Jonghe P, Rudnik-Schoneborn S, Zerres K, Schroder JM, (2003). Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126: 642-649. (Pubitemid 36240865)
30. Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ, (2003). Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126: 2023-2033.
31. Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinos C, Palau F, (2008). Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 131: 3051-3061.
32. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M, (2005). Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64: 1209-1214.
33. Wagner KM, Ruegg M, Niemann A, Suter U, (2009). Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor. PLoS One 4: e5160.
34. Yum SW, Zhang J, Mo K, Li J, Scherer SS, (2009). A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 66: 759-770.