Abstract
Recent progress in human genetics and neurobiology has led to the identification of various mutations in particular myelin genes as the cause for many of the known inherited demyelinating peripheral neuropathies. Mutations in 3 distinct myelin genes, PMP22, P0, and connexin 32 cause the 3 major demyelinating subtypes of Charcot-Marie-Tooth (CMT) disease, CMT1A, CMT1B and CMTX, respectively. In addition, a reduction in the gene dosage of PMP22 causes hereditary neuropathy with liability to pressure palsies (HNPP), while particular point mutations in PMP22 and P0 cause the severe Dejerine-Sottas (DS) neuropathy. A series of spontaneous and genetically engineered rodent mutants for genes for the above-mentioned myelin constituents are now available and their suitability to serve as models for these still untreatable diseases is an issue of particular interest. The spontaneous mutants Trembler-J and Trembler, with point mutations in PMP22, reflect some of the pathological alterations seen in CMT1A and DS patients, respectively. Furthermore, engineered mutants that either over or underexpress particular myelin genes are suitable models for patients who are similarly compromised in the gene dosage of the corresponding genes. In addition, engineered mutants heterozygously or homozygously deficient in the myelin component P0 show the pathology of distinct CMT1B and DS patients, respectively, while Cx32 deficient mice develop pathological abnormalities similar to those of CMTX patients. Mutants that mimic human peripheral neuropathies might allow the development of strategies to alleviate the symptoms of the diseases, and help to define environmental risk factors for aggravation of the disease. In addition, such mutants might be instrumental in the development of strategies to cure the diseases by gene therapy.
Keywords: Charcot-Marie-Tooth disease, Dejerine-Sottas disease, peripheral nerve myelination
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- 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. 1997 Jun 15;17(12):4662–4671. doi: 10.1523/JNEUROSCI.17-12-04662.1997. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Adlkofer K., Martini R., Aguzzi A., Zielasek J., Toyka K. V., Suter U. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet. 1995 Nov;11(3):274–280. doi: 10.1038/ng1195-274. [DOI] [PubMed] [Google Scholar]
- Aguayo A. J., Attiwell M., Trecarten J., Perkins S., Bray G. M. Abnormal myelination in transplanted Trembler mouse Schwann cells. Nature. 1977 Jan 6;265(5589):73–75. doi: 10.1038/265073a0. [DOI] [PubMed] [Google Scholar]
- Anzini P., Neuberg D. H., Schachner M., Nelles E., Willecke K., Zielasek J., Toyka K. V., Suter U., Martini R. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci. 1997 Jun 15;17(12):4545–4551. doi: 10.1523/JNEUROSCI.17-12-04545.1997. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bergoffen J., Scherer S. S., Wang S., Scott M. O., Bone L. J., Paul D. L., Chen K., Lensch M. W., Chance P. F., Fischbeck K. H. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039–2042. doi: 10.1126/science.8266101. [DOI] [PubMed] [Google Scholar]
- Bruzzone R., Ressot C. Connexins, gap junctions and cell-cell signalling in the nervous system. Eur J Neurosci. 1997 Jan;9(1):1–6. doi: 10.1111/j.1460-9568.1997.tb01346.x. [DOI] [PubMed] [Google Scholar]
- Bruzzone R., White T. W., Scherer S. S., Fischbeck K. H., Paul D. L. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron. 1994 Nov;13(5):1253–1260. doi: 10.1016/0896-6273(94)90063-9. [DOI] [PubMed] [Google Scholar]
- Carenini S., Montag D., Cremer H., Schachner M., Martini R. Absence of the myelin-associated glycoprotein (MAG) and the neural cell adhesion molecule (N-CAM) interferes with the maintenance, but not with the formation of peripheral myelin. Cell Tissue Res. 1997 Jan;287(1):3–9. doi: 10.1007/s004410050727. [DOI] [PubMed] [Google Scholar]
- Chance P. F., Alderson M. K., Leppig K. A., Lensch M. W., Matsunami N., Smith B., Swanson P. D., Odelberg S. J., Disteche C. M., Bird T. D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143–151. doi: 10.1016/0092-8674(93)90058-x. [DOI] [PubMed] [Google Scholar]
- D'Urso D., Brophy P. J., Staugaitis S. M., Gillespie C. S., Frey A. B., Stempak J. G., Colman D. R. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron. 1990 Mar;4(3):449–460. doi: 10.1016/0896-6273(90)90057-m. [DOI] [PubMed] [Google Scholar]
- Ding Y., Brunden K. R. The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers. J Biol Chem. 1994 Apr 8;269(14):10764–10770. [PubMed] [Google Scholar]
- Fannon A. M., Sherman D. L., Ilyina-Gragerova G., Brophy P. J., Friedrich V. L., Jr, Colman D. R. Novel E-cadherin-mediated adhesion in peripheral nerve: Schwann cell architecture is stabilized by autotypic adherens junctions. J Cell Biol. 1995 Apr;129(1):189–202. doi: 10.1083/jcb.129.1.189. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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. 1990 Apr 26;344(6269):871–872. doi: 10.1038/344871a0. [DOI] [PubMed] [Google Scholar]
- Fisher K. J., Jooss K., Alston J., Yang Y., Haecker S. E., High K., Pathak R., Raper S. E., Wilson J. M. Recombinant adeno-associated virus for muscle directed gene therapy. Nat Med. 1997 Mar;3(3):306–312. doi: 10.1038/nm0397-306. [DOI] [PubMed] [Google Scholar]
- Fruttiger M., Montag D., Schachner M., Martini R. Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity. Eur J Neurosci. 1995 Mar 1;7(3):511–515. doi: 10.1111/j.1460-9568.1995.tb00347.x. [DOI] [PubMed] [Google Scholar]
- Gabreëls-Festen A. A., Bolhuis P. A., Hoogendijk J. E., Valentijn L. J., Eshuis E. J., Gabreëls F. J. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol. 1995;90(6):645–649. doi: 10.1007/BF00318579. [DOI] [PubMed] [Google Scholar]
- Gabreëls-Festen A. A., Gabreëls F. J., Jennekens F. G., Joosten E. M., Janssen-van Kempen T. W. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology. 1992 Sep;42(9):1755–1761. doi: 10.1212/wnl.42.9.1755. [DOI] [PubMed] [Google Scholar]
- Gabreëls-Festen A. A., Hoogendijk J. E., Meijerink P. H., Gabreëls F. J., Bolhuis P. A., van Beersum S., Kulkens T., Nelis E., Jennekens F. G., de Visser M. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology. 1996 Sep;47(3):761–765. doi: 10.1212/wnl.47.3.761. [DOI] [PubMed] [Google Scholar]
- 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. 1992 Nov 13;71(4):565–576. doi: 10.1016/0092-8674(92)90591-y. [DOI] [PubMed] [Google Scholar]
- Hahn A. F., Brown W. F., Koopman W. J., Feasby T. E. X-linked dominant hereditary motor and sensory neuropathy. Brain. 1990 Oct;113(Pt 5):1511–1525. doi: 10.1093/brain/113.5.1511. [DOI] [PubMed] [Google Scholar]
- Hanemann C. O., Stoll G., D'Urso D., Fricke W., Martin J. J., Van Broeckhoven C., Mancardi G. L., Bartke I., Müller H. W. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res. 1994 Apr 1;37(5):654–659. doi: 10.1002/jnr.490370513. [DOI] [PubMed] [Google Scholar]
- Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T., Takada G., Nicholson G. A., Ouvrier R. A., Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266–268. doi: 10.1038/ng1193-266. [DOI] [PubMed] [Google Scholar]
- Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T., Takada G., Nicholson G. A., Ouvrier R. A., Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266–268. doi: 10.1038/ng1193-266. [DOI] [PubMed] [Google Scholar]
- Hayasaka K., Takada G., Ionasescu V. V. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet. 1993 Sep;2(9):1369–1372. doi: 10.1093/hmg/2.9.1369. [DOI] [PubMed] [Google Scholar]
- Heath J. W., Inuzuka T., Quarles R. H., Trapp B. D. Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice. J Neurocytol. 1991 Jun;20(6):439–449. doi: 10.1007/BF01252272. [DOI] [PubMed] [Google Scholar]
- Henry E. W., Cowen J. S., Sidman R. L. Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. J Neuropathol Exp Neurol. 1983 Nov;42(6):688–706. doi: 10.1097/00005072-198311000-00008. [DOI] [PubMed] [Google Scholar]
- Huxley C., Passage E., Manson A., Putzu G., Figarella-Branger D., Pellissier J. F., Fontés M. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet. 1996 May;5(5):563–569. doi: 10.1093/hmg/5.5.563. [DOI] [PubMed] [Google Scholar]
- Ionasescu V. V. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve. 1995 Mar;18(3):267–275. doi: 10.1002/mus.880180302. [DOI] [PubMed] [Google Scholar]
- Ionasescu V. V., Searby C. C., Ionasescu R., Chatkupt S., Patel N., Koenigsberger R. Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve. 1997 Jan;20(1):97–99. doi: 10.1002/(sici)1097-4598(199701)20:1<97::aid-mus13>3.0.co;2-z. [DOI] [PubMed] [Google Scholar]
- Ionasescu V., Ionasescu R., Searby C. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet. 1996 Jun 14;63(3):486–491. doi: 10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I. [DOI] [PubMed] [Google Scholar]
- Jacobs J. M., Gregory R. Uncompacted lamellae as a feature of tomaculous neuropathy. Acta Neuropathol. 1991;83(1):87–91. doi: 10.1007/BF00294435. [DOI] [PubMed] [Google Scholar]
- Kirschner D. A., Ganser A. L. Compact myelin exists in the absence of basic protein in the shiverer mutant mouse. Nature. 1980 Jan 10;283(5743):207–210. doi: 10.1038/283207a0. [DOI] [PubMed] [Google Scholar]
- Kirschner D. A., Saavedra R. A. Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain. J Neurosci Res. 1994 Sep 1;39(1):63–69. doi: 10.1002/jnr.490390109. [DOI] [PubMed] [Google Scholar]
- Koenig H., Do Thi A., Ferzaz B., Ressouches A. Schwann cell proliferation during postnatal development, Wallerian degeneration and axon regeneration in trembler dysmyelinating mutant. Adv Exp Med Biol. 1991;296:227–238. doi: 10.1007/978-1-4684-8047-4_21. [DOI] [PubMed] [Google Scholar]
- Kulkens T., Bolhuis P. A., Wolterman R. A., Kemp S., te Nijenhuis S., Valentijn L. J., Hensels G. W., Jennekens F. G., de Visser M., Hoogendijk J. E. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35–39. doi: 10.1038/ng0993-35. [DOI] [PubMed] [Google Scholar]
- Lemke G. Unwrapping the genes of myelin. Neuron. 1988 Sep;1(7):535–543. doi: 10.1016/0896-6273(88)90103-1. [DOI] [PubMed] [Google Scholar]
- Levi A. D., Bunge R. P., Lofgren J. A., Meima L., Hefti F., Nikolics K., Sliwkowski M. X. The influence of heregulins on human Schwann cell proliferation. J Neurosci. 1995 Feb;15(2):1329–1340. doi: 10.1523/JNEUROSCI.15-02-01329.1995. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lupski J. R., de Oca-Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., Saucedo-Cardenas O., Barker D. F., Killian J. M., Garcia C. A. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26;66(2):219–232. doi: 10.1016/0092-8674(91)90613-4. [DOI] [PubMed] [Google Scholar]
- Magyar J. P., Martini R., Ruelicke T., Aguzzi A., Adlkofer K., Dembic Z., Zielasek J., Toyka K. V., Suter U. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci. 1996 Sep 1;16(17):5351–5360. doi: 10.1523/JNEUROSCI.16-17-05351.1996. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mariman E. C., Gabreëls-Festen A. A., van Beersum S. E., Jongen P. J., van de Looij E., Baas F., Bolhuis P. A., Ropers H. H., Gabreëls F. J. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151–156. doi: 10.1007/BF00210601. [DOI] [PubMed] [Google Scholar]
- Mariman E. C., Gabreëls-Festen A. A., van Beersum S. E., Valentijn L. J., Baas F., Bolhuis P. A., Jongen P. J., Ropers H. H., Gabreëls F. J. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol. 1994 Oct;36(4):650–655. doi: 10.1002/ana.410360415. [DOI] [PubMed] [Google Scholar]
- Marrosu M. G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C., Muntoni F. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology. 1997 Feb;48(2):489–493. doi: 10.1212/wnl.48.2.489. [DOI] [PubMed] [Google Scholar]
- Martini R., Mohajeri M. H., Kasper S., Giese K. P., Schachner M. Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J Neurosci. 1995 Jun;15(6):4488–4495. doi: 10.1523/JNEUROSCI.15-06-04488.1995. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Martini R., Schachner M. Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules. Glia. 1997 Apr;19(4):298–310. [PubMed] [Google Scholar]
- Martini R., Zielasek J., Toyka K. V., Giese K. P., Schachner M. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet. 1995 Nov;11(3):281–286. doi: 10.1038/ng1195-281. [DOI] [PubMed] [Google Scholar]
- Meier C., Moll C. Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature. J Neurol. 1982;228(2):73–95. doi: 10.1007/BF00313754. [DOI] [PubMed] [Google Scholar]
- Murakami T., Garcia C. A., Reiter L. T., Lupski J. R. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore) 1996 Sep;75(5):233–250. doi: 10.1097/00005792-199609000-00001. [DOI] [PubMed] [Google Scholar]
- Navon R., Seifried B., Gal-On N. S., Sadeh M. A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. Hum Genet. 1996 May;97(5):685–687. doi: 10.1007/BF02281883. [DOI] [PubMed] [Google Scholar]
- Nicholson G. A., Valentijn L. J., Cherryson A. K., Kennerson M. L., Bragg T. L., DeKroon R. M., Ross D. A., Pollard J. D., McLeod J. G., Bolhuis P. A. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263–266. doi: 10.1038/ng0394-263. [DOI] [PubMed] [Google Scholar]
- Oda K., Miura H., Shibasaki H., Endo C., Kakigi R., Kuroda Y., Tanaka K. Hereditary pressure-sensitive neuropathy: demonstration of "tomacula" in motor nerve fibers. J Neurol Sci. 1990 Sep;98(2-3):139–148. doi: 10.1016/0022-510x(90)90254-k. [DOI] [PubMed] [Google Scholar]
- Omori Y., Mesnil M., Yamasaki H. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. Mol Biol Cell. 1996 Jun;7(6):907–916. doi: 10.1091/mbc.7.6.907. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Paul D. L. New functions for gap junctions. Curr Opin Cell Biol. 1995 Oct;7(5):665–672. doi: 10.1016/0955-0674(95)80108-1. [DOI] [PubMed] [Google Scholar]
- Rabadan-Diehl C., Dahl G., Werner R. A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. FEBS Lett. 1994 Aug 29;351(1):90–94. doi: 10.1016/0014-5793(94)00819-1. [DOI] [PubMed] [Google Scholar]
- Rutkowski J. L., Tennekoon G. I., McGillicuddy J. E. Selective culture of mitotically active human Schwann cells from adult sural nerves. Ann Neurol. 1992 Jun;31(6):580–586. doi: 10.1002/ana.410310603. [DOI] [PubMed] [Google Scholar]
- Schenone A., Nobbio L., Mandich P., Bellone E., Abbruzzese M., Aymar F., Mancardi G. L., Windebank A. J. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology. 1997 Feb;48(2):445–449. doi: 10.1212/wnl.48.2.445. [DOI] [PubMed] [Google Scholar]
- Scherer S. S., Deschênes S. M., Xu Y. T., Grinspan J. B., Fischbeck K. H., Paul D. L. Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci. 1995 Dec;15(12):8281–8294. doi: 10.1523/JNEUROSCI.15-12-08281.1995. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Scherer S. S. Molecular genetics of demyelination: new wrinkles on an old membrane. Neuron. 1997 Jan;18(1):13–16. doi: 10.1016/s0896-6273(01)80042-8. [DOI] [PubMed] [Google Scholar]
- Schneider-Schaulies J., von Brunn A., Schachner M. Recombinant peripheral myelin protein P0 confers both adhesion and neurite outgrowth-promoting properties. J Neurosci Res. 1990 Nov;27(3):286–297. doi: 10.1002/jnr.490270307. [DOI] [PubMed] [Google Scholar]
- Sereda M., Griffiths I., Pühlhofer A., Stewart H., Rossner M. J., Zimmerman F., Magyar J. P., Schneider A., Hund E., Meinck H. M. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron. 1996 May;16(5):1049–1060. doi: 10.1016/s0896-6273(00)80128-2. [DOI] [PubMed] [Google Scholar]
- Sghirlanzoni A., Pareyson D., Balestrini M. R., Bellone E., Berta E., Ciano C., Mandich P., Marazzi R. HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. Neurology. 1992 Nov;42(11):2201–2204. doi: 10.1212/wnl.42.11.2201. [DOI] [PubMed] [Google Scholar]
- Sghirlanzoni A., Pareyson D., Marazzi R., Cavaletti G., Bellone E., Mandich P., Balestrini M. R., Riva D. Homozygous hypertrophic hereditary motor and sensory neuropathies. Ital J Neurol Sci. 1994 Feb;15(1):5–14. doi: 10.1007/BF02343492. [DOI] [PubMed] [Google Scholar]
- 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. 1996 Sep;17(3):435–449. doi: 10.1016/s0896-6273(00)80176-2. [DOI] [PubMed] [Google Scholar]
- Shy M. E., Tani M., Shi Y. J., Whyatt S. A., Chbihi T., Scherer S. S., Kamholz J. An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. Ann Neurol. 1995 Sep;38(3):429–436. doi: 10.1002/ana.410380313. [DOI] [PubMed] [Google Scholar]
- Snipes G. J., Suter U. Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anat. 1995 Jun;186(Pt 3):483–494. [PMC free article] [PubMed] [Google Scholar]
- Snipes G. J., Suter U., Welcher A. A., Shooter E. M. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992 Apr;117(1):225–238. doi: 10.1083/jcb.117.1.225. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Su Y., Brooks D. G., Li L., Lepercq J., Trofatter J. A., Ravetch J. V., Lebo R. V. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10856–10860. doi: 10.1073/pnas.90.22.10856. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Suter U., Moskow J. J., Welcher A. A., Snipes G. J., Kosaras B., Sidman R. L., Buchberg A. M., Shooter E. M. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4382–4386. doi: 10.1073/pnas.89.10.4382. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Suter U., Snipes G. J. Biology and genetics of hereditary motor and sensory neuropathies. Annu Rev Neurosci. 1995;18:45–75. doi: 10.1146/annurev.ne.18.030195.000401. [DOI] [PubMed] [Google Scholar]
- Suter U., Welcher A. A., Ozcelik T., Snipes G. J., Kosaras B., Francke U., Billings-Gagliardi S., Sidman R. L., Shooter E. M. Trembler mouse carries a point mutation in a myelin gene. Nature. 1992 Mar 19;356(6366):241–244. doi: 10.1038/356241a0. [DOI] [PubMed] [Google Scholar]
- Tan C. C., Ainsworth P. J., Hahn A. F., MacLeod P. M. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease. Hum Mutat. 1996;7(2):167–171. doi: 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0. [DOI] [PubMed] [Google Scholar]
- Thomas F. P., Lebo R. V., Rosoklija G., Ding X. S., Lovelace R. E., Latov N., Hays A. P. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol. 1994;87(1):91–97. doi: 10.1007/BF00386259. [DOI] [PubMed] [Google Scholar]
- Thomas P. K., King R. H., Small J. R., Robertson A. M. The pathology of charcot-marie-tooth disease and related disorders. Neuropathol Appl Neurobiol. 1996 Aug;22(4):269–284. doi: 10.1111/j.1365-2990.1996.tb01105.x. [DOI] [PubMed] [Google Scholar]
- Tyson J., Malcolm S., Thomas P. K., Harding A. E. Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann Neurol. 1996 Feb;39(2):180–186. doi: 10.1002/ana.410390207. [DOI] [PubMed] [Google Scholar]
- Valentijn L. J., Baas F., Wolterman R. A., Hoogendijk J. E., van den Bosch N. H., Zorn I., Gabreëls-Festen A. W., de Visser M., Bolhuis P. A. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Dec;2(4):288–291. doi: 10.1038/ng1292-288. [DOI] [PubMed] [Google Scholar]
- Vallat J. M., Sindou P., Preux P. M., Tabaraud F., Milor A. M., Couratier P., LeGuern E., Brice A. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol. 1996 Jun;39(6):813–817. doi: 10.1002/ana.410390621. [DOI] [PubMed] [Google Scholar]
- Warner L. E., Hilz M. J., Appel S. H., Killian J. M., Kolodry E. H., Karpati G., Carpenter S., Watters G. V., Wheeler C., Witt D. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep;17(3):451–460. doi: 10.1016/s0896-6273(00)80177-4. [DOI] [PubMed] [Google Scholar]
- Wong M. H., Filbin M. T. Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain. J Cell Biol. 1996 Sep;134(6):1531–1541. doi: 10.1083/jcb.134.6.1531. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Yoshikawa H., Dyck P. J. Uncompacted inner myelin lamellae in inherited tendency to pressure palsy. J Neuropathol Exp Neurol. 1991 Sep;50(5):649–657. doi: 10.1097/00005072-199109000-00009. [DOI] [PubMed] [Google Scholar]
- Yoshikawa H., Nishimura T., Nakatsuji Y., Fujimura H., Himoro M., Hayasaka K., Sakoda S., Yanagihara T. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol. 1994 Apr;35(4):445–450. doi: 10.1002/ana.410350412. [DOI] [PubMed] [Google Scholar]
- Young P., Wiebusch H., Stögbauer F., Ringelstein B., Assmann G., Funke H. A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology. 1997 Feb;48(2):450–452. doi: 10.1212/wnl.48.2.450. [DOI] [PubMed] [Google Scholar]
- Zielasek J., Martini R., Toyka K. V. Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. Muscle Nerve. 1996 Aug;19(8):946–952. doi: 10.1002/(SICI)1097-4598(199608)19:8<946::AID-MUS2>3.0.CO;2-8. [DOI] [PubMed] [Google Scholar]