Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

Brain

Volumn 126, Issue 9, 2003, Pages 2023-2033

  Sevilla, Teresa ^a   Cuesta, Ana ^b   Chumillas, María José ^a   Mayordomo, Fernando ^a   Pedrola, Laia ^b   Palau, Francesc ^b   Vílchez, Juan J ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

Charcot Marie Tooth disease type 2; GDAP1 gene; Hereditary motor and sensory neuropathy type II; Vocal cord paresis, autosomal recessive

Indexed keywords

GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; NERVE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL POPULATION; CELL PROLIFERATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATION; ELECTROPHYSIOLOGY; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HISTOPATHOLOGY; HOARSENESS; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE BIOPSY; NERVE FIBER DEGENERATION; NERVE FIBER REGENERATION; PHENOTYPE; PRIORITY JOURNAL; SCHWANN CELL; SPAIN; SURAL NERVE; TISSUE STRUCTURE; VOCAL CORD PARALYSIS;

ADULT; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; ELECTROPHYSIOLOGY; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MUTATION; NERVE FIBERS, MYELINATED; NERVE TISSUE PROTEINS; PEDIGREE; SIGNAL TRANSDUCTION; SURAL NERVE; VOCAL CORD PARALYSIS;

EID: 0041821401     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg202     Document Type: Article

References (45)

1. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet 2002; 30: 21-2.
2. BenOthmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993; 2: 1625-8.
3. Boerkoel CF, Takashima H, Lupski JR. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep 2002a; 2: 70-7.
4. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenothype correlation. Ann Neurol 2002b; 51: 190-201.
5. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, et al. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 2003; 53: 400-5.
6. Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 1996; 5: 1051-4.
7. Bolton CF. AAEM Minimonograph: 40. Clinical neurophysiology of the respiratory system. Muscle Nerve 1993; 16: 809-18.
8. Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vilchez JJ, et al. Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene. Hum Mutat 1998; Suppl. 1: S95-8.
9. Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nature Genet 2002; 30: 22-5.
10. 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: 281-90.
11. Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, et al. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of a MAG as a candidate gene. Am J Hum Genet 2000; 67: 236-43.
12. Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124: 1958-67
13. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968a; 18: 603-18.
14. Dyck PJ, Lambert EH, Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968b; 18: 619-25.
15. 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; 1993. p. 1094-36.
16. Dyck PJ, Litchy WJ, Minnerath S, Bird TD, Chance PF, Schaid DJ, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994; 35: 608-15.
17. Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, Stegeman DF, Vos AJM, Busch HF. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 1990; 113: 1629-43.
18. Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, Jennekens FG, Gooskens RH, Stegeman DF. Hereditary motor and sensory neuropathy of neuronal type with onset in early chidhood. Brain 1991; 114: 1855-70.
19. Gabreëls-Festen AA, Joosten EM, Gabreeëls FJ, Jennekens FG, Janssen-van Kempen TW. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci 1992; 107: 145-54.
20. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990; 113: 1511-25.
21. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980a; 103: 259-80.
22. Harding AE, Thomas PK. Autosomal recessive forms of hereditary motor and sensory neuropathy (types I and II). J Neurol Neurosurg Psychiatry 1980b; 43: 669-78.
23. Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, et al. De novo mutation of the myelin PO gene in Dejerine Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 1993; 5: 266-8.
24. Hentati F, Ben Othmane K, Barhoumi C, Amouri R, Ben Hamida Ch, Ben Hamida M. Genotype phenotype relation analysis in autosomal recessive Charcot-Marie-Tooth disease in Tunisia. Acta Myol 2001; 20: 25-8.
25. Ionasescu VV, Ionasescu R, Searby Ch, Neahring R. Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology 1995; 45: 1766-7.
26. Kaku DA, Parry GJ, Malamut R, Lupski JR, García CA, Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1993; 43: 2664-7.
27. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet 1996; 14: 214-7.
28. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123: 1516-27.
29. LeGuern E, Guilbot A, Kessal M, Ravisé N, Tassin J, Maisonobe T, et al. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet 1996; 5: 1685-1688.
30. Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, 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.
31. Nelis E, Erdem S, Van den Bergh PYK, Belpaire-Dethiou M-C, Ceuterick C, Van Gerwen V, et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopapthy. Neurology 2002; 59: 1865-72.
32. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1993; 43: 2558-64.
33. Ouvrier RA, McLeod JM, Morgan GJ, Wise GA, Conchin TE. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neurol Sci 1981; 51: 181-97.
34. Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, et al. Cranial nerve involvement in Charcot-Marie-Tooth disease type 1 due to early growth response 2 gene mutation. Neurology 2000; 54: 1696-8.
35. Reilly MM. Classification of the hereditary motor and sensory neuropathies. Curr Opin Neurol 2000; 13: 561-4.
36. Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC, Krendel DA, et al. Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology 1987; 37: 1460-5.
37. Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999; 45: 16-24.
38. Senderek J,Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003; 126: 642-9.
39. Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 2002; 1: 110-8.
40. Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RHM, Bradley JL, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120: 465-78.
41. Thomas PK, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King RHM, et al. Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan gypsies. Ann Neurol 2001; 50: 452-7.
42. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, et al. Novel missense mutation in the early growth response 2 gene associated with a Dejerine-Sottas syndrome phenotype. Neurology 1999; 52: 1827-32.
43. Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996; 46: 569-71.
44. Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 1980; 43: 413-8.
45. Young P, Grote K, Kuhlenbäumer G, Debus O, Kurlemann H, Halftar H, et al. Mutation analysis in Charcot-Marie-Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. J Neurol 2001; 248: 410-5.