Hereditary motor and sensory neuropathies: A biological perspective

Lancet Neurology

Volumn 1, Issue 2, 2002, Pages 110-118

  Shy, Michael E ^a,b   Garbern, James Y ^a   Kamholz, John ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Elliman Building ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; PROTEIN;

CYTOLOGY; GENE; GENE MUTATION; GENETIC CODE; HUMAN; INHERITANCE; MOTOR NEUROPATHY; NERVE FIBER; NERVE FIBER DEGENERATION; NEUROFILAMENT; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SCHWANN CELL; SENSORY NEUROPATHY; AMINO ACID SEQUENCE; ANIMAL; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY;

AMINO ACID SEQUENCE; ANIMALS; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0041653190     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(02)00042-X     Document Type: Review

References (109)

1. Charcot J., Marie P. Sue une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains. Rev Med. 6:1886;97-138.
2. Tooth H. The peroneal type of progressive muscular atrophy. 1886;Lewis, London.
3. Déjérine H., Sottas J. Sur la nevritte interstitielle, hypertrophique et progressive de l'enfance. CR Soc Biol Paris. 45:1893;63-96.
4. Roussy G., Levy G. A sept cas d'une maladie familiale particulaire. Rev Neurol. 33:1926;427-450.
5. Dyck P.J., Lambert E.H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II, neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol. 18:1968;619-625.
6. Dyck P.J., Lambert E.H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I, neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 18:1968;603-618.
7. Harding A.E., Thomas P.K. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet. 17:1980;329-336.
8. Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 103:1980;259-280.
9. Buchthal F., Behse F. Peroneal muscular atrophy (PMA) and related disorders: I, clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain. 100:1977;41-66.
10. Bradley W.G., Madrid R., Davis C.J. The peroneal muscular atrophy syndrome: clinical genetic, electrophysiological and nerve biopsy studies - part 3, clinical, electrophysiological and pathological correlations. J Neurol Sci. 32:1977;123-136.
11. Brust J.C., Lovelace R.E., Devi S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand Suppl. 68:1978;1-142.
12. Bird T.D., Ott J., Giblett E.R. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 34:1982;388-394.
13. Vance J.M., Nicholson G.A., Yamaoka L.H., et al. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 104:1989;186-189.
14. Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66:1991;219-232.
15. Raeymaekers P., Timmerman V., Nelis E., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord. 1:1991;93-97.
16. Roa B.B., Garcia C.A., Suter U., et al. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 329:1993;96-101.
17. Nelis E., Timmerman V., De Jonghe P., Van Broeckhoven C. Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum Mol Genet. 3:1994;515-516.
18. Chance P.F., Alderson M.K., Leppig K.A., et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72:1993;143-151.
19. Nicholson G.A., Valentijn L.J., Cherryson A.K., et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 6:1994;263-266.
20. Hoogendijk J.E., Janssen E.A., Gabreels-Festen A.A., et al. Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). Neurology. 43:1993;1010-1015.
21. Ionasescu V.V., Ionasescu R., Searby C., Neahring R. Déjé rine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology. 45:1995;1766-1767.
22. Marques W. Jr, Thomas P.K., Sweeney M.G., Carr L., Wood N.W. Déjérine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72. Ann Neurol. 43:1998;680-683.
23. Roa B.B., Dyck P.J., Marks H.G., Chance P.F., Lupski J.R. Déjérine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 5:1993;269-273.
24. Tyson J., Ellis D., Fairbrother U., et al. Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome. Brain. 120:1997;47-63.
25. Warner L.E., Hilz M.J., Appel S.H., et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot- Marie-Tooth type 1B, Déjérine-Sottas, and congenital hypomyelination. Neuron. 17:1996;451-460.
26. Nelis E., Haites N., Van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat. 13:1999;11-28.
27. Roa B.B., Warner L.E., Garcia C.A., et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 7:1996;36-45.
28. Xu W., Shy M., Kamholz J., et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol. 155:2001;439-446.
29. Mandich P., Mancardi G.L., Varese A., et al. Congenital hypomyelination due to myelin protein zero Q215X mutation. Ann Neurol. 45:1999;676-678.
30. Senderek J., Hermanns B., Lehmann U., et al. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. Brain Pathol. 10:2000;235-248.
31. Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C., Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology. 50:1998;1397-1401.
32. De Jonghe P., Timmerman V., Ceuterick C., et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain. 122:1999;281-290.
33. Ionasescu V.V., Ionasescu R., Searby C. Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve. 16:1993;1232-1238.
34. Rozear M.P., Pericak-Vance M.A., Fischbeck K., et al. Hereditary motor and sensory neuropathy,X-linked: a half century follow-up. Neurology. 37:1987;1460-1465.
35. Hahn A.F., Brown W.F., Koopman W.J., Feasby T.E. X-linked dominant hereditary motor and sensory neuropathy. Brain. 113:1990;1511-1525.
36. Boerkoel C.F., Takashima H., Stankiewicz P., et al. Periaxin mutations cause recessive Déjérine-Sottas neuropathy. Am J Hum Genet. 68:2001;325-333.
37. Guilbot A., Williams A., Ravise N., et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet. 10:2001;415-421.
38. Yoshihara T., Kanda F., Yamamoto M., et al. A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. J Neurol Sci. 184:2001;149-153.
39. Timmerman V., De Jonghe P., Ceuterick C., et al. Novel missense mutation in the early growth response 2 gene associated with Déjé rine-Sottas syndrome phenotype. Neurology. 52:1999;1827-1832.
40. Bellone E., Di Maria E., Soriani S., et al. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Hum Mutat. 14:1999;353-354.
41. Warner L.E., Mancias P., Butler I.J., et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 18:1998;382-384.
42. Gambardella A., Bono F., Muglia M., Valentino P., Quattrone A. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Ann NY Acad Sci. 883:1999;47-55.
43. Bolino A., Muglia M., Conforti F.L., et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 25:2000;17-19.
44. Mersiyanova I.V., Perepelov A.V., Polyakov A.V., et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 67:2000;37-46.
45. Zhao C., Takita J., Tanaka Y., et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 105:2001;587-597.
46. Asbury A.K., Gale M.K., Cox S.C., Baringer J.R., Berg B.O. Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol. 20:1972;237-247.
47. 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. 26:2000;370-374.
48. Tandan R., Little B.W., Emery E.S., Good P.S., Pendlebury W.W., Bradley W.G. Childhood giant axonal neuropathy: case report and review of the literature. J Neurol Sci. 82:1987;205-228.
49. Baxter R.V., Ben-Othmane K., Rochelle J.M., et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 30:2002;21-22.
50. 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. 30:2002;22-25.
51. 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. 46:1999;770-773.
52. Thomas P.K., Marques W., Davis M.B., et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain. 120:1997;465-478.
53. Arroyo E.J., Scherer S.S. On the molecular architecture of myelinated fibers. Histochem Cell Biol. 113:2000;1-18.
54. Brady S.T., Witt A.S., Kirkpatrick L.L., et al. Formation of compact myelin is required for maturation of the axonal cytoskeleton. J Neurosci. 19:1999;7278-7288.
55. Harrison R.G. Neuroblast versus sheath cell in the development of peripheral nerves. J Comp Neurol. 37:1924;123-194.
56. Le Douarin N.M., Dupin E. Cell lineage analysis in neural crest ontogeny. J Neurobiol. 24:1993;146-161.
57. Webster H. Development of peripheral nerve fibers. Dyck P.K.T., Low P.A., Poduslo J.F. Peripheral neuropathy. 1993;243-266 WB Saunders, Philadelphia.
58. Scherer S.S. The biology and pathobiology of Schwann cells. Curr Opin Neurol. 10:1997;386-397.
59. Mirsky R., Jessen K.R. Schwann cell development, differentiation and myelination. Curr Opin Neurobiol. 6:1996;89-96.
60. Giese K.P., Martini R., Lemke G., Soriano P., Schachner M. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell. 71:1992;565-576.
61. Adlkofer K., Frei R., Neuberg D.H., Zielasek J., Toyka K.V., Suter U. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci. 17:1997;4662-4671.
62. Sereda M., Griffiths I., Puhlhofer A., et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron. 16:1996;1049-1060.
63. Magyar J.P., Martini R., Ruelicke T., et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci. 16:1996;5351-5360.
64. Vallat J.M., Sindou P., Preux P.M., et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol. 39:1996;813-817.
65. Lemke G., Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell. 40:1985;501-508.
66. Filbin M.T., Walsh F.S., Trapp B.D., Pizzey J.A., Tennekoon G.I. Role of myelin P0 protein as a homophilic adhesion molecule. Nature. 344:1990;871-872.
67. Shapiro L., Doyle J.P., Hensley P., Colman D.R., Hendrickson W.A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron. 17:1996;435-449.
68. 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. 60:2000;714-724.
69. Wong M.H., Filbin M.T. The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain. J Cell Biol. 126:1994;1089-1097.
70. Wong M.H., Filbin M.T. Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain. J Cell Biol. 134:1996;1531-1541.
71. Scherer S.S. Molecular specializations at nodes and paranodes in peripheral nerve. Microsc Res Tech. 34:1996;452-461.
72. Anzini P., Neuberg D.H., Schachner M., et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci. 17:1997;4545-4551.
73. Scherer S.S., Xu Y.T., Nelles E., Fischbeck K., Willecke K., Bone L.J. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia. 24:1998;8-20.
74. Gillespie C.S., Sherman D.L., Blair G.E., Brophy P.J. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron. 12:1994;497-508.
75. Dytrych L., Sherman D.L., Gillespie C.S., Brophy P.J. Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells. J Biol Chem. 273:1998;5794-5800.
76. Scherer S.S., Xu Y.T., Bannerman P.G., Sherman D.L., Brophy P.J. Periaxin expression in myelinating Schwann cells: modulation by axon- glial interactions and polarized localization during development. Development. 121:1995;4265-4273.
77. Sherman D.L., Fabrizi C., Gillespie C.S., Brophy P.J. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron. 30:2001;677-687.
78. Yamada H., Shimizu T., Tanaka T., Campbell K.P., Matsumura K. Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett. 352:1994;49-53.
79. Sherman D.L., Brophy P.J. A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. J Biol Chem. 275:2000;4537-45440.
80. Schroder JM, Ceuterick C, Martin JJ, et al. Separation of terminal myelin loops from axons in periaxin neuropathy (CNT4F). European Charcot Marie Tooth consortium annual symposium, 2001.
81. Rogers T., Chandler D., Angelicheva D., et al. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 67:2000;664-671.
82. 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. 54:2000;1696-1698.
83. Topilko P., Schneider-Maunoury S., Levi G., et al. Krox-20 controls myelination in the peripheral nervous system. Nature. 371:1994;796-799.
84. Zorick T.S., Syroid D.E., Arroyo E., Scherer S.S., Lemke G. The transcription factors SCIP and Krox-20 mark distinct stages and cell fates in Schwann cell differentiation. Mol Cell Neurosci. 8:1996;129-145.
85. Nagarajan R., Svaren J., Le N., Araki T., Watson M., Milbrandt J. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron. 30:2001;355-368.
86. Bermingham J.R., Scherer S.S., O'Connell S., et al. Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration. Genes Dev. 10:1996;1751-1762.
87. Scherer S.S., Wang D.Y., Kuhn R., Lemke G., Wrabetz L., Kamholz J. Axons regulate Schwann cell expression of the POU transcription factor SCIP. J Neurosci. 14:1994;1930-1942.
88. Kamholz J., Menichella D., Jani A., Garbern J., Lewis R.A., Krajewski K.M., et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain. 123:2000;222-223.
89. Laporte J., Blondeau F., Buj-Bello A., Mandel J.L. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 17:2001;221-228.
90. DeJonghe P., Mersivanova I., Nelis E., Del Favero J., Martin J.J., van Broeckhoven C. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol. 49:2001;245-249.
91. Kriz J., Zhu Q., Julien J.P., Padjen A.L. Electrophysiological properties of axons in mice lacking neurofilament subunit genes: disparity between conduction velocity and axon diameter in absence of NF-H. Brain Res. 885:2000;32-44.
92. Zhu Q., Couillard-Despres S., Julien J.P. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol. 148:1997;299-316.
93. Sanchez I., Hassinger L., Sihag R.K., Cleveland D.W., Mohan P., Nixon R.A. Local control of neurofilament accumulation during radial growth of myelinating axons in vivo: selective role of site-specific phosphorylation. J Cell Biol. 151:2000;1013-1024.
94. Flanigan K.M., Crawford T.O., Griffin J.W., et al. Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol. 43:1998;143-148.
95. Liu H., Nakagawa T., Kanematsu T., Uchida T., Tsuju S. Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. J Neurochem. 72:1999;1781-1790.
96. Garcia 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. 50:1998;1061-1067.
97. Gutmann L., Fakadej A., Riggs J.E. Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type. Muscle Nerve. 6:1983;515-519.
98. Krajewski K.M., Lewis R.A., Fuerst D.R., et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 123:2000;1516-1527.
99. Dyck P.J., Lais A.C., Offord K.P. The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. Mayo Clin Proc. 49:1974;34-39.
100. Gabreels-Festen A.A., Joosten E.M., Gabreels F.J., Jennekens F.G., Janssen-van Kempen T.W. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci. 107:1992;145-154.
101. Sancho S., Magyar J.P., Aguzzi A., Suter U. Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain. 122:1999;1563-1577.
102. de Waegh S., Brady S.T. Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions. J Neurosci. 10:1990;1855-1865.
103. Watson D.F., Nachtman F.N., Kuncl R.W., Griffin J.W. Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. Neurology. 44:1994;2383-2387.
104. Aguayo A.J., Kasarjian J., Skamene E., Kongshavn P., Bray G.M. Myelination of mouse axons by Schwann cells transplanted from normal and abnormal human nerves. Nature. 268:1977;753-755.
105. Sahenk Z., Chen L., Mendell J.R. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol. 45:1999;16-24.
106. Hsieh S.T., Kidd G.J., Crawford T.O., et al. Regional modulation of neurofilament organization by myelination in normal axons. J Neurosci. 14:1994;6392-6401.
107. Hsieh S.T., Crawford T.O., Griffin J.W. Neurofilament distribution and organization in the myelinated axons of the peripheral nervous system. Brain Res. 642:1994;316-326.
108. Oppenheim R.W., Houenou L.J., Johnson J.E., et al. Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF. Nature. 373:1995;344-346.
109. Yan Q., Matheson C., Lopez O.T. In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons. Nature. 373:1995;341-344.