Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease;Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

Neurologia

Volumn 27, Issue 3, 2012, Pages 169-178

  Berciano, J ^a   Sevilla, T ^b   Casasnovas, C ^c   Sivera, R ^b   Vilchez J J ^b   Infante, J ^a   Ramon C ^d   Pelayo Negro, A L ^a   Illa, I ^e  

^a UNIVERSITY OF CANTABRIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^d HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Axon; Charcot Marie Tooth disease; Clinical guideline; Dejerine Sottas disease; Gene mutation; Genetic counselling; Genetic neuropathy; Molecular diagnosis; Motor nerve conduction velocity; Myelin

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; GDAP1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HK1 GENE; MFN2 GENE; MOLECULAR DIAGNOSIS; MOTOR NERVE CONDUCTION; MPZ GENE; NDRG1 GENE; PMP22 GENE; SH3TC2 GENE; SHORT SURVEY; X CHROMOSOME LINKED DISORDER;

CHARCOT-MARIE-TOOTH DISEASE; GENETIC MARKERS; GUIDELINES AS TOPIC; HUMANS; MOLECULAR EPIDEMIOLOGY; MUTATION;

EID: 84859445357     PISSN: 02134853     EISSN: 15781968     Source Type: Journal    
DOI: 10.1016/j.nrl.2011.04.015     Document Type: Short Survey

References (67)

1. Combarros O., Calleja J., Polo J.M., Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987, 75:9-12.
2. Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.
3. Shy M.E., Lupski J.R., Chance P.H., Klein C.J., Dyck P.J. Hereditary motor and sensory neuropathies. Peripheral neuropathy 2005, 1623-1658. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas (Eds.).
4. Pareyson D., Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009, 8:654-667.
5. Dyck P.J. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons. Peripheral neuropathy 1975, 825-867. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas, E.H. Lambert (Eds.).
6. Niemann A., Berger P., Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8:217-242.
7. Szigeti K., Lupski J.R. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009, 17:703-710.
8. Reilly M.M., Shy M.E. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 2009, 80:1304-1314.
9. Saporta A.S., Sottile S.L., Miller L.J., Feely S.M., Siskind C.E., Shy M.E. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011, 69:22-33.
10. Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C., Nazareth L., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010, 362:1181-1191.
11. Züchner S. Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT. Nat Rev Neurol 2010, 6:424-425.
12. Dejerine J., Sottas J. Sur la névrite interstitielle, hypertrophique et progressive de l'enfance. Affection souvent familiale et à début infantile, caractérisée par une atrophie musculaire des extrémités, avec troubles marqués de la sensibilité et ataxie des mouvements et relevant d'une névrite interstitielle hypertrophique á marche ascendante, avec lésions médullaires consécutives. C R Soc Biol (Paris) 1893, 45:63-96.
13. Baxter R.V., Ben Othmane K., Rochelle J.M., Stajich J.E., Hulette C., Dew-Knight S., et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002, 30:21-22.
14. Cuesta A., Pedrola L., Sevilla T., García-Planells J., Chumillas M.J., Mayordomo F., et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002, 30:22-25.
15. Ito D., Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 2009, 132:8-15.
16. Zimoń M., Baets J., Auer-Grumbach M., Berciano J., Garcia A., Lopez-Laso E., et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010, 133:1798-1809.
17. Berciano J., Combarros O., Calleja J., Polo J.M., Leno C. The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I. Muscle Nerve 1989, 12:302-306.
18. García A., Combarros O., Calleja J., Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998, 50:1061-1067.
19. Berciano J., García A., Calleja J., Combarros O. Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscul Disord 2000, 10:419-424.
20. Krajewski K.M., Lewis R.A., Fuerst D.R., Turansky C., Hinderer S.R., Garbern J., et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000, 123:1516-1527.
21. Lupski J.R., De Oca-Luna R.M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B.J., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991, 66:219-232.
22. Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J.E., Baas F., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia). Neuromuscul Disord 1991, 1:93-97.
23. Taioli F., Cabrini I., Cavallaro T., Acler M., Fabrizi G.M. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. Brain 2011, 134:608-617.
24. Shy M.E., Jáni A., Krajewski K., Grandis M., Lewis R.A., Li J., et al. Phenotypic clustering in MPZ mutations. Brain 2004, 127:371-384.
25. Gallardo E., García A., Ramón C., Maraví E., Infante J., Gastón I., et al. Charcot-Marie-Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family. J Neurol 2009, 256:2061-2071.
26. Oterino A., Montón F.I., Cabrera V.M., Pinto F., Gonzalez A., Lavilla N.R. Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. J Med Genet 1996, 33:413-415.
27. Casasnovas C., Banchs I., Corral J., Martínez-Matos J.A., Volpini V. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. Clin Genet 2006, 70:516-523.
28. Claeys K.G., Züchner S., Kennerson M., Berciano J., Garcia A., Verhoeven K., et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009, 132:1741-1752.
29. Gallardo E., Claeys K.G., Nelis E., García A., Canga A., Combarros O., et al. Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. J Neurol 2008, 255:986-992.
30. Züchner S., Vance J.M. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006, 2:45-53.
31. Solla P., Vannelli A., Bolino A., Marrosu G., Coviello S., Murru M.R., et al. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. J Neurol Neurosurg Psychiatry 2010, 81:958-962.
32. Pedrola L., Espert A., Wu X., Claramunt R., Shy M.E., Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005, 14:1087-1094.
33. Züchner S., De Jonghe P., Jordanova A., Claeys K.G., Guergueltcheva V., et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006, 59:276-281.
34. Banchs I., Casasnovas C., Montero J., Martínez-Matos J.A., Volpini V. Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. Neuromuscul Disord 2008, 18:974-978.
35. Casasnovas C., Banchs I., Cassereau J., Gueguen N., Chevrollier A., Martínez-Matos J.A., et al. Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 2010, 47:249-256.
36. Sevilla T., Cuesta A., Chumillas M.J., Mayordomo F., Pedrola L., Palau F., et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003, 126:2023-2033.
37. Sevilla T., Jaijo T., Nauffal D., Collado D., Chumillas M.J., Vilchez J.J., et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008, 131:3051-3061.
38. Claramunt R., Pedrola L., Sevilla T., López de Munain A., Berciano J., Cuesta A., et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005, 42:358-365.
39. Sivera R., Espinós C., Vílchez J.J., Mas F., Martínez-Rubio D., Chumillas M.J., et al. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2010, 15:334-344.
40. Auer-Grumbach M., Schlotter-Weigel B., Lochmüller H., Strobl-Wildemann G., Auer-Grumbach P., Fischer R., et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 2005, 57:415-424.
41. Nilius B., Owsianik G. Channelopathies converge on TRPV4. Nat Genet 2010, 42:98-100.
42. Auer-Grumbach M., Olschewski A., Papić L., Kremer H., McEntagart M.E., Uhrig S., et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010, 42:160-164.
43. Deng H.X., Klein C.J., Yan J., Shi Y., Wu Y., Fecto F., et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010, 42:165-169.
44. Landouré G., Zdebik A.A., Martinez T.L., Burnett B.G., Stanescu H.C., Inada H., et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010, 42:170-174.
45. Berciano J., Baets J., Gallardo E., Zimoń M., García A., López-Laso E., et al. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. J Neurol 2011, [Epub ahead of print].
46. Berciano J., García A., Combarros O. Initial semeiology in children with Charcot-Marie-Tooth disease. Muscle Nerve 2003, 27:34-39.
47. Berciano J., Gallardo E., García A., Ramón C., Mateo I., Infante J., et al. CMT1A duplication: refining the minimal adult phenotype. Peripher Nerv Syst 2008, 13:310-312.
48. Gallardo E., García A., Combarros O., Berciano J. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 2006, 129:426-437.
49. Shy M.E., Blake J., Krajewski K., Fuerst D.R., Laura M., Hahn A.F., et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005, 64:1209-1214.
50. Combarros O., Calleja J., Figols J., Cabello A., Berciano J. Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families. J Neurol Sci 1983, 61:181-191.
51. García A., Criscuolo C., De Michele G., Berciano J. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. Muscle Nerve 2008, 37:107-110.
52. England J.D., Gronseth G.S., Franklin G., Carter G.T., Kinsella L.J., Cohen J.A., et al. PracticepParameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 2009, 72:177-184.
53. Nelis E., Van Broeckhoven C., De Jonghe P., Löfgren A., Vandenberghe A., Latour P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996, 4:25-33.
54. Nicolaou P., Zamba-Papanicolaou E., Koutsou P., Kleopa K.A., Georghiou A., Hadjigeorgiou G., et al. Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics. Neuroepidemiology 2010, 35:171-177.
55. Banchs I., Casasnovas C., Montero J., Volpini V., Martínez-Matos J.A. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene. Muscle Nerve 2010, 42:184-188.
56. Dubourg O., Azzedine H., Verny C., Durosier G., Birouk N., Gouider R., et al. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8:75-86.
57. Planté-Bordeneuve V., Said G. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. Muscle Nerve 2002, 26:608-621.
58. Berciano J., Berciano M.T., Combarros O. Original descriptions of peroneal muscular atrophy. Muscle Nerve 2003, 28:251-252.
59. Claramunt R., Sevilla T., Lupo V., Cuesta A., Millán J.M., Vílchez J.J., et al. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet 2007, 71:343-349.
60. Lupo V., Galindo M.I., Martínez-Rubio D., Sevilla T., Vílchez J.J., Palau F., et al. Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet 2009, 18:4603-4614.
61. Colomer J., Iturriaga C., Kalaydjieva L., Angelicheva D., King R.H., Thomas P.K. Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies. Neuromuscul Disord 2000, 10:578-583.
62. Hantke J., Chandler D., King R., Wanders R.J., Angelicheva D., Tournev I., et al. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -Russe (HMSNR). Eur J Hum Genet 2009, 17:1606-1614.
63. Abe A., Numakura C., Saito K., Koide H., Oka N., Honma A., et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 2009, 54:94-97.
64. Yum S.W., Zhang J., Mo K., Li J., Scherer S.S. A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 2009, 66:759-770.
65. Houlden H., Laura M., Wavrant-De Vrièze F., Blake J., Wood N., Reilly M.M. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 2008, 71:1660-1668.
66. Calvo J., Funalot B., Ouvrier R.A., Lazaro L., Toutain A., De Mas P., et al. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 2009, 66:1511-1516.
67. Amato A.A., Reilly M.M. The death panel for Charcot-Marie-Tooth panels. Ann Neurol 2011, 69:1-4.