Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

Journal of Neuroscience

Volumn 17, Issue 12, 1997, Pages 4662-4671

  Adlkofer, Katrin ^a   Frei, Regula ^a   Neuberg, Dirk H H ^a   Zielasek, Jürgen ^b   Toyka, Klaus V ^b   Suter, Ueli ^a  

^a ETH ZURICH   (Switzerland)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Charcot Marie Tooth disease; CMT; Demyelination; hereditary neuropathy with liability to pressure palsies; HNPP; Myelin; Peripheral myelin protein 22; Peripheral neuropathy; PMP22; Tomaculous neuropathy

Indexed keywords

DNA; MYELIN PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; ELECTRON MICROSCOPY; FACIAL NERVE; GENOTYPE; HETEROZYGOSITY; IMMUNOHISTOCHEMISTRY; LATENT PERIOD; MOUSE; NERVE CONDUCTION; NERVE STIMULATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCIATIC NERVE; TRANSGENIC MOUSE;

EID: 0030994297     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.17-12-04662.1997     Document Type: Article

References (17)

1. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyelination and demyelinating peripheral neuropathy in pmp22-deficient mice. Nature Genet 11:274-280.
2. Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ (1996) Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 19:16-22.
3. Anzini P, Neuberg DH-H, Schachner M, Nelles E, Willecke K, Zielasek J, Toyka K, Suter U, Martini R (1997) Structural abnormalitites and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 17:4545-4551.
4. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151.
5. Davies DM (1954) Recurrent peripheral nerve palsies in a family. Lancet 2:266-268.
6. De Jong JGY (1947) Over families met héréditaire disposite tot het optreten van neuritiden, gecorreladed met migraine. Psychiatr Neurol Bl (Amsterdam) 50:60-76.
7. Dyck PJ, Chance PF, Lebo RV, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Peripheral neuropathy (Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds), pp 1094-1136. Philadelphia: WB Saunders.
8. Earl CJ, Fullerton PM, Wakefield GS, Schutta HS (1964) Hereditary neuropathy with liability to pressure palsies: a clinical and electrophysiological study of 4 families. Q J Med 33:481-498.
9. Fabbretti E, Edomi P, Brancolini C, Schneider C (1995) Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev 9:1846-1856.
10. Fruttiger M, Montag D, Schachner M, Martini R (1995) Crucial role of the myelin-associated glycoprotein in the maintenance of axon-myelin integrity. Eur J Neurosci 7:511-515.
11. Giese KP, Martini R, Lemke G, Soriano P, Schachner M (1992) Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71:565-576.
12. Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM, Vallat JM, Agid Y, Bouche P, Brice A (1995) Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45:2018-2023.
13. Gould RM, Byrd AL, Barbarese E (1995) The number of Schmidt-Lanterman incisures is more than doubled in shiverer PNS myelin sheaths. J Neurocytol 24:85-98.
14. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
15. Madrid R, Bradley WG (1975) The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): studies on the formation of the abnormal myelin sheath. J Neurol Sci 25:415-488.
16. Taylor V, Suter U (1996) Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of peripheral myelin protein 22 gene family. Gene 175:115-120.
17. Taylor V, Welcher AA, AMGEN Est Program, Suter U (1995) Epithelial membrane protein-1, peripheral myelin protein 22 and lens membrane protein 20 define a novel gene family. J Biol Chem 270:28824-28833.