Genetic epidemiology of Charcot-Marie-Tooth disease

Acta Neurologica Scandinavica

Volumn 126, Issue S193, 2012, Pages

  Braathen, G J ^a,b  

^a AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

Charcot Marie Tooth; Cx32; EGR2; Epidemiology; Genes; Genetics; MFN2; MPZ; Nerve conduction velocity; PMP22; SIMPLE

Indexed keywords

CONNEXIN 32; CYSTEINE; DISULFIDE; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22; GAP JUNCTION PROTEIN; MYELIN PROTEIN;

ADULT; ARTICLE; CODON; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; HEALTH SURVEY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INDEL MUTATION; INTERVIEW; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE CONDUCTION; NORWAY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; PREVALENCE; SEQUENCE ANALYSIS; GENETICS; GENOTYPE; METHODOLOGY; MOLECULAR EPIDEMIOLOGY;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; GENETIC TESTING; GENOTYPE; HUMANS; MOLECULAR EPIDEMIOLOGY; MYELIN P0 PROTEIN; NORWAY; PHENOTYPE; POINT MUTATION;

EID: 84868107456     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/ane.12013     Document Type: Article

References (195)

1. Charcot JM, Marie P. Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains. Rev Méd Paris 1886;6:97-138.
2. Tooth HH. The peroneal type of progressive muscular atrophy. London: H. K. Lewis, 1886.
3. Davidenkov S. Uber die neurotische Muskelatrophie Charcot-Marie. Klinisch-genetische Studien. Z Ges Neurol Psychiatr 1926;107:259-320.
4. Davidenkov S. Uber die neurotische Muskelatrophie Charcot-Marie. Klinisch-genetische Studien. Z Ges Neurol Psychiatr 1927;108:344-445.
5. Kaeser HE. Scapuloperoneal muscular atrophy. Brain 1965;88:407-18.
6. Delong R, Siddique T. A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol 1992;49:905-8.
7. Kazakov V. What is Davidenkov's scapuloperoneal amyotrophy: is it a myopathic entity or a neurogenic syndrome? What was Davidenkov's opinion concerning this knotty problem? Neuromuscul Disord 2003;13:91-2.
8. Walter MC, Reilich P, Huebner A et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007;130:1485-96.
9. Deng HX, Klein CJ, Yan J et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42:165-9.
10. 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 1968;18:603-18.
11. 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 1968;18:619-25.
12. Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978;26:311-49.
13. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 1980;45:337-48.
14. Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:3-22.
15. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-67.
16. Schroder JM. Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromolecular Med 2006;8:23-42.
17. Sabatelli M, Bertini E, Servidei S, Fernandez E, Magi S, Tonali P. Giant axonal neuropathy: report on a case with focal fiber loss. Acta Neuropathol 1992;83:543-6.
18. Bomont P, Cavalier L, Blondeau F et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 2000;26:370-4.
19. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
20. Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 1982;34:388-94.
21. Beckett J, Holden JJ, Simpson NE, White BN, Macleod PM. Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13. J Neurogenet 1986;3:225-31.
22. Vance JM, Nicholson GA, Yamaoka LH et al. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol 1989;104:186-9.
23. Raeymaekers P, Timmerman V, Nelis E et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991;1:93-7.
24. Lupski JR, De Oca-Luna RM, Slaugenhaupt S et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-32.
25. Patel PI, Roa BB, Welcher AA et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:159-65.
26. Valentijn LJ, Bolhuis PA, Zorn I et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-70.
27. Timmerman V, Nelis E, Van Hul W et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992;1:171-5.
28. Matsunami N, Smith B, Ballard L et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992;1:176-9.
29. Valentijn LJ, Baas F, Wolterman RA et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-91.
30. Hayasaka K, Himoro M, Sato W et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993;5:31-4.
31. Bergoffen J, Scherer SS, Wang S et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-42.
32. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim 2010 (accessed 9 February 2010).
33. Inherited Peripheral Neuropathies Mutation Database. http://www.molgen.ua.ac.be/CMTMutations/ 17 December 2007 (accessed 9 February 2010).
34. Skre H. Neurological signs in a normal population. Acta Neurol Scand 1972;48:575-606.
35. Skre H. Application of a quantitative scoring system in the investigation of some hereditary neurological disorders. Clin Genet 1974;5:163-72.
36. Dyck PJ, Turner DW, Davies JL, O'Brien PC, Dyck PJ, Rask CA. Electronic case-report forms of symptoms and impairments of peripheral neuropathy. Can J Neurol Sci 2002;29:258-66.
37. 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.
38. Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000;107:494-8.
39. NCBI Genbank Overview. http://www.ncbi.nlm.nih.gov/genbank/ 2010 (accessed 31 January 2007).
40. Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics methods and protocols: methods in molecular biology. Totowa, NJ: Humana Press, 2000: 365-86. 2010. http://fokker.wi.mit.edu/primer3 (accessed 31 January 2007).
41. den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001;109:121-4.
42. Harrower T, Stewart JD, Hudson G et al. POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Arch Neurol 2008;65:133-6.
43. Santoro L, Manganelli F, Lanzillo R et al. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. J Neurol 2006;253:869-74.
44. Dejerine J, Sottas J. Sur la nevrite interstitielle hypertrophique et progressive de l'enfance. C R Seances Soc Biol Fil 1893;45:63-96.
45. Gabreels-Festen AA, Gabreels FJ, Jennekens FG, Janssen-Van Kempen TW. The status of HMSN type III. Neuromuscul Disord 1994;4:63-9.
46. Gabreels-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 2002;200:341-56.
47. Numakura C, Shirahata E, Yamashita S et al. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 2003;210:61-4.
48. Boerkoel CF, Takashima H, Nakagawa M et al. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 2003;53:400-5.
49. Hayasaka K, Himoro M, Sawaishi Y et al. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5:266-8.
50. Roa BB, Garcia CA, Pentao L et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 1993;5:189-94.
51. Boerkoel CF, Takashima H, Stankiewicz P et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 2001;68:325-33.
52. Chung KW, Sunwoo IN, Kim SM et al. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 2005;6:159-63.
53. Al-Thihli K, Rudkin T, Carson N, Poulin C, Melancon S, der Kaloustian VM. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A 2008;146A:2412-6.
54. Guzzetta F, Ferriere G, Lyon G. Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life. Brain 1982;105:395-416.
55. Harati Y, Butler IJ. Congenital hypomyelinating neuropathy. J Neurol Neurosurg Psychiatry 1985;48:1269-76.
56. Balestrini MR, Cavaletti G, D'Angelo A, Tredici G. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuropediatrics 1991;22:65-70.
57. Warner LE, Mancias P, Butler IJ et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-4.
58. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-60.
59. Bolino A, Lonie LJ, Zimmer M et al. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics 2001;3:107-9.
60. Fabrizi GM, Simonati A, Taioli F et al. PMP22 related congenital hypomyelination neuropathy. J Neurol Neurosurg Psychiatry 2001;70:123-6.
61. Inoue K, Shilo K, Boerkoel CF et al. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 2002;52:836-42.
62. Roussy G, Levy G. A propos de la dystasie areflexique hereditaire. Rev Neurol 1934;62:763-73.
63. Rombold CR, Riley HA. The abortive type of Friedreich's disease. Arch Neurol Psychiatry 1926;16:301-12.
64. Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Korner E, Fazekas F. Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. J Neurol Sci 1998;154:72-5.
65. Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G. The Roussy-Levy family: from the original description to the gene. Ann Neurol 1999;46:770-3.
66. Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: PJ Dyck, PK Thomas, JW Griffin, PA Low, JF Poduslo, eds. Peripheral neuropathy. Philadelphia: W. B. Saunders, 1993;1051-64.
67. Emery AE. The nosology of the spinal muscular atrophies. J Med Genet 1971;8:481-95.
68. Pearn J, Hudgson P. Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. J Neurol Sci 1979;43:183-91.
69. Chance PF, Rabin BA, Ryan SG et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 1998;62:633-40.
70. de Jonghe P, Auer-Grumbach M, Irobi J et al. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain 2002;125:1320-5.
71. Chen YZ, Bennett CL, Huynh HM et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004;74:1128-35.
72. Windpassinger C, Auer-Grumbach M, Irobi J et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004;36:271-6.
73. Puls I, Jonnakuty C, Lamonte BH et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-6.
74. Antonellis A, Ellsworth RE, Sambuughin N et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-9.
75. Irobi J, Van IK, Seeman P et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597-601.
76. Tang BS, Zhao GH, Luo W et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005;116:222-4.
77. Evgrafov OV, Mersiyanova I, Irobi J et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-6.
78. Grohmann K, Schuelke M, Diers A et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001;29:75-7.
79. Maystadt I, Rezsohazy R, Barkats M et al. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 2007;81:67-76.
80. Lubec D, Mullbacher W, Finsterer J, Mamoli B. Diagnostic work-up in peripheral neuropathy: an analysis of 171 cases. Postgrad Med J 1999;75:723-7.
81. Pareyson D, Scaioli V, Taroni F et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 1996;46:1133-7.
82. Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci 2004;25:72-82.
83. England JD, Gronseth GS, Franklin G et al. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve 2009;39:116-25.
84. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities-review and nosologic discussion. Am J Med Genet 1982;11:185-239.
85. Spaans F, Jennekens FG, Mirandolle JF, Bijlsma JB, de Gast GC. Myotonic dystrophy associated with hereditary motor and sensory neuropathy. Brain 1986;109:1149-68.
86. Said G. Diabetic neuropathy: an update. J Neurol 1996;243:431-40.
87. Grogan PM, Katz JS. Toxic neuropathies. Neurol Clin 2005;23:377-96.
88. Braathen GJ, Sand JC, Russell MB. Symptomatic Charcot-Marie-Tooth? A pair of concordant monozygotic twins. Acta Neurol Scand 2006;114:403-6.
89. Eide PK, Skullerud K. Teratoma of the medullary cone as a cause of peripheral polyneuropathy. Tidsskr Nor Laegeforen 1994;114:1185-6.
90. Aids to the examination of the peripheral nervous system, 6th edn. London, Philadelphia, Toronto, Sydney, Tokyo: W B Saunders, 1997.
91. Dyck PJ, Hughes RAC, O'Brien PC. Quantitating overall neuropathic symptoms, impairments and outcomes. In: PJ Dyck, PK Thomas, eds. Peripheral neuropathy. Philadelphia: Elsevier Saunders, 2005;1031-53.
92. Eldøen G, Fladby T, Solhoff R. Neuropati - defisitt - skår. In: Tysnes OB. Veileder i akuttnevrologi. Oslo, Norway: The Norwegian Neurological Association, 2007;41-3.
93. Kleyweg RP, van der Meche FG, Schmitz PI. Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barre syndrome. Muscle Nerve 1991;14:1103-9.
94. Haberlova J, Seeman P. Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease. Pediatr Neurol 2010;43:407-10.
95. Shy ME, Chen L, Swan ER et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 2008;70:378-83.
96. Berkson J. Limitations of the application of fourfold tables to hospital data. Biometr Bull 1946;2:47-53.
97. Sackett DL. Bias in analytic research. J Chronic Dis 1979;32:51-63.
98. Statistics Norway. http://www.ssb.no. 2010 (accessed 9 December 2009).
99. 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.
100. 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.
101. Lucotte G, Berriche S, Bathelier C et al. Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France. Genet Couns 1995;6:355-60.
102. Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum Mutat 2002;20:392-8.
103. Choi BO, Lee MS, Shin SH et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2004;24:185-6.
104. Mersiyanova IV, Ismailov SM, Polyakov AV et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2000;15:340-7.
105. Bort S, Martinez F, Palau F. Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am J Hum Genet 1997;60:230-3.
106. Bort S, Nelis E, Timmerman V et al. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 1997;99:746-54.
107. Holmberg BH, Holmgren G, Nelis E, Van Broeckhoven C, Westerberg B. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. J Med Genet 1994;31:435-41.
108. Verhoeven K, Claeys KG, Zuchner S et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006;129:2093-102.
109. Wise CA, Garcia CA, Davis SN et al. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication [see comment]. Am J Hum Genet 1993;53:853-63.
110. Nelis E, Van Broeckhoven C, De Jonghe 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.
111. Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009;17:703-10.
112. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009;10:451-81.
113. Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. Yonsei Med J 2005;46:347-52.
114. Stangler HS, Zagradisnik B, Erjavec SA, Zagorac A, Kokalj VN. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods. J Int Med Res 2009;37:1626-31.
115. Ikegami T, Nicholson G, Ikeda H et al. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Biochem Biophys Res Commun 1996;222:107-10.
116. Taroni F, Botti S, Sghirlanzoni A, Pareyson D. PMP22 and MPZ mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD). Am J Hum Genet 1996;59(Suppl):A288.
117. Banchs I, Casasnovas C, de Jorge L. A novel mutation in GDAP1 and a change in MFN2 gene in a family with a severe form of Charcot-Marie-Tooth. Eur J Hum Genet 2008;16:S88.
118. Meggouh F, De Visser M, Arts WF, de Coo RI, van Schaik IN, Baas F. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. Ann Neurol 2005;57:589-91.
119. Huang J, Wu X, Montenegro G et al. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol 2010;257:735-41.
120. Shy ME, Scavina MT, Clark A et al. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol 2006;59:358-64.
121. Saifi GM, Szigeti K, Wiszniewski W et al. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat 2005;25:372-83.
122. Beauvais K, Furby A, Latour P. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. Neuromuscul Disord 2006;16:14-8.
123. Mastaglia FL, Nowak KJ, Stell R et al. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1999;67:174-9.
124. Taroni F, Pareyson D, Botti S, Sghirlanzoni A, Nemni R, Riva D. Mutations in the Schwann cell transcription factor EGR2/Krox20 in patients with severe hereditary demyelinating neuropathies. Neurology 1999;52:258-9.
125. Pareyson D, Taroni F, Botti S et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 2000;54:1696-8.
126. Vandenberghe N, Upadhyaya M, Gatignol A et al. Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 2002;39:e81.
127. Gabreels-Festen AA, Hoogendijk JE, Meijerink PH et al. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 1996;47:761-5.
128. Rouger H, Leguern E, Gouider R 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;58:638-41.
129. Tachi N, Kozuka N, Ohya K et al. A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis. Neurosci Lett 1996;204:173-6.
130. Roa BB, Warner LE, Garcia CA et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat 1996;7:36-45.
131. Tyson J, Ellis D, Fairbrother U et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 1997;120:47-63.
132. Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0. J Neurol 2002;249:1298-302.
133. Jen J, Baloh RH, Ishiyama A, Baloh RW. Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. J Neurol Sci 2005;237:21-4.
134. Ionasescu VV, Searby CC, Ionasescu R, Reisin R, Ruggieri V, Arberas C. Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. Muscle Nerve 1997;20:1308-10.
135. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-73.
136. Simonati A, Fabrizi GM, Pasquinelli A et al. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. Neuromuscul Disord 1999;9:257-61.
137. Bissar-Tadmouri N, Parman Y, Boutrand L et al. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin Genet 2000;58:396-402.
138. Cuesta A, Pedrola L, Sevilla T et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-5.
139. Morocutti C, Colazza GB, Soldati G et al. Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study. Neuroepidemiology 2002;21:241-5.
140. Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K. An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology 2002;21:246-50.
141. Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987;75:9-12.
142. Guthmundsson B, Olafsson E, Jakobsson F, Luthvigsson P. Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population. Neuroepidemiology 2010;34:13-7.
143. Yoshihara T, Yamamoto M, Doyu M et al. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. Hum Mutat 2000;16:177-8.
144. Janssen EA, Kemp S, Hensels GW et al. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet 1997;99:501-5.
145. Martyn CN, Hughes RA. Epidemiology of peripheral neuropathy. J Neurol Neurosurg Psychiatry 1997;62:310-8.
146. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80.
147. Fairweather N, Bell C, Cochrane S et al. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 1994;3:29-34.
148. Zuchner S, Mersiyanova IV, Muglia M et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-51.
149. Haites NE, Nelis E, van Broeckhoven C. 3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. Neuromuscul Disord 1998;8:591-603.
150. Yoshihara T, Yamamoto M, Hattori N et al. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst 2002;7:221-4.
151. Blair IP, Nash J, Gordon MJ, Nicholson GA. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.[see comment]. Am J Hum Genet 1996;58:472-6.
152. Neusch C, Senderek J, Eggermann T, Elolff E, Bahr M, Schneider-Gold C. Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). Eur J Neurol 2007;14:575-7.
153. Vogel F, Motulsky AG. Population genetics: description and Dynamics. Human genetics. Berlin, Heidelberg, New York: Springer Verlag, 1996;495-548.
154. Musil LS, Goodenough DA. Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER. Cell 1993;74:1065-77.
155. Richard G, White TW, Smith LE et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998;103:393-9.
156. Scherer SS, Deschenes SM, Xu YT, Grinspan JB, Fischbeck KH, Paul DL. Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci 1995;15:8281-94.
157. Santel A, Fuller MT. Control of mitochondrial morphology by a human mitofusin. J Cell Sci 2001;114:867-74.
158. Santel A. Get the balance right: mitofusins roles in health and disease. Biochim Biophys Acta 2006;1763:490-9.
159. Detmer SA, Vande VC, Cleveland DW, Chan DC. Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Hum Mol Genet 2008;17:367-75.
160. Guillet V, Gueguen N, Verny C et al. Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 2010;11:127-33.
161. D'Urso D, Brophy PJ, Staugaitis SM et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990;4:449-60.
162. Eichberg J, Iyer S. Phosphorylation of myelin protein: recent advances. Neurochem Res 1996;21:527-35.
163. Lemke G. Unwrapping the genes of myelin. Neuron 1988;1:535-43.
164. Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GI. Role of myelin P0 protein as a homophilic adhesion molecule. Nature 1990;344:871-2.
165. Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996;17:435-49.
166. Lemke G, Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 1985;40:501-8.
167. Xu W, Manichella D, Jiang H et al. Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res 2000;60:714-24.
168. Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS. Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 1997;4:221-30.
169. Latour P, Levy N, Paret M et al. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. Neurogenetics 1997;1:117-23.
170. Silander K, Meretoja P, Pihko H et al. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet 1997;100:391-7.
171. Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003;61:1475-8.
172. Casasnovas C, Banchs I, Corral J, Martinez-Matos JA, Volpini V. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. Clin Genet 2006;70:516-23.
173. Tan CC, Ainsworth PJ, Hahn AF, Macleod PM. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease. Hum Mutat 1996;7:167-71.
174. Dubourg O, Tardieu S, Birouk N et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001;124:1958-67.
175. Lin GS, Glass JD, Shumas S, Scherer SS, Fischbeck KH. A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female. Ann N Y Acad Sci 1999;883:481-4.
176. Lee MJ, Nelson I, Houlden H et al. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2002;73:304-6.
177. Birouk N, Leguern E, Maisonobe T et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 1998;50:1074-82.
178. Hahn AF, Bolton CF, White CM et al. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann N Y Acad Sci 1999;883:366-82.
179. Kumar NM, Gilula NB. The gap junction communication channel. Cell 1996;84:381-8.
180. Kijima K, Numakura C, Izumino H et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet 2005;116:23-7.
181. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005;65:197-204.
182. Engelfried K, Vorgerd M, Hagedorn M et al. Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med Genet 2006;7:53.
183. Zhu D, Kennerson ML, Walizada G, Zuchner S, Vance JM, Nicholson GA. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology 2005;65:496-7.
184. Chung KW, Kim SB, Park KD et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006;129:8-18.
185. Zuchner S, De Jonghe P, Jordanova A et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006;59:276-81.
186. Hattori N, Yamamoto M, Yoshihara T et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003;126:134-51.
187. Grandis M, Vigo T, Passalacqua M et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 2008;17:1877-89.
188. Avila RL, Inouye H, Baek RC et al. Structure and stability of internodal myelin in mouse models of hereditary neuropathy. J Neuropathol Exp Neurol 2005;64:976-90.
189. Pennuto M, Tinelli E, Malaguti M et al. Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 2008;57:393-405.
190. Kulkens T, Bolhuis PA, Wolterman RA et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 1993;5:35-9.
191. Wrabetz L, D'Antonio M, Pennuto M et al. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci 2006;26:2358-68.
192. 2+ channel gene CACNL1A4. Cell 1996;87:543-52.
193. Zhuchenko O, Bailey J, Bonnen P et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
194. Kochanski A, Drac H, Kabzinska D et al. A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Neurology 2004;62:2122-3.
195. Marques W Jr, Hanna MG, Marques SR, Sweeney MG, Thomas PK, Wood NW. Phenotypic variation of a new P0 mutation in genetically identical twins. J Neurol 1999;246:596-9.