The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem

Neurology

Volumn 61, Issue 11, 2003, Pages 1475-1478

  Taylor, Robert A ^a,c   Simon, Erin M ^b   Marks, Harold G ^b   Scherer, Steven S ^a  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APHASIA; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DYSARTHRIA; DYSPHAGIA; ELECTRON SPIN RESONANCE; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DELETION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOREFLEXIA; MALE; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESIS; PARESTHESIA; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SYMPTOM; X CHROMOSOME LINKED DISORDER;

EID: 0345600908     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000095960.48964.25     Document Type: Review

References (27)

1. Kleopa KA, Scherer SS. Inherited neuropathies. Neurol Clin N Am 2002;20:679-709.
2. Balice-Gordon RJ, Bone LJ, Scherer SS. Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 1998;142:1095-1104.
3. Rash JE, Yasumura T, Dudek FE, Nagy JI. Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons. J Neurosci 2001;21:1983-2000.
4. Abrams CK, Oh S, Ri Y, Bargiello TA. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Rev 2000;32:203-214.
5. Yum SW, Kleopa KA, Shumas S, Scherer SS. Diverse trafficking abnormalities for connexin32 mutants causing CMTX. Neurobiol Dis 2002;11:43-52.
6. Nicholson G, Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain auditory evoked responses. J Neurol Neurosurg Psychiatry 1996;61:43-46.
7. Nicholson GA, Yeung L, Corbett A. Efficient neurophysiological selection of X-linked Charcot-Marie-Tooth families. Neurology 1998;51:1412-1416.
8. Panas M, Kalfakis N, Karadimas C, Vassilopoulos D. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. Neurology 2001;57:1906-1908.
9. Paulson H, Garbern JY, Hoban TF, et al. Transient CNS white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 2002;52:429-434.
10. Schelhaas HJ, Van Engelen BG, Gabreels-Festen AA, et al. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology 2002;59:2007-2008.
11. Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 2003;60:605-609.
12. 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;73:304-306.
13. Panas M, Karadimas C, Avramopoulos D, Vassilopoulos D. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. J Neurol Neurosurg Psychiatry 1998;65:947-948.
14. 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;99:746-754.
15. Bähr M, Andres F, Timmerman V, Nelis E, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene. J Neurol Neurosurg Psychiatry 1999;66:202-206.
16. Seeman P, Mazanec R, Ctvrteckova M, Smilkova D. Charcot-Marie-Tooth type X. A novel mutation in the Cx32 gene with central conduction slowing. Int J Mol Med 2001;8:461-468.
17. Kawakami H, Inoue K, Sakakihara I, Nakamura S. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment. Neurology 2002;59:923-926.
18. Kleopa KA, Yum SW, Scherer SS. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J Neurosci Res 2002;68:522-534.
19. Altevogt BM, Kleopa KA, Postma FR, Scherer SS, Paul DL. Cx29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J Neurosci 2002;22:6458-6470.
20. Li X, Lynn BD, Olson C, et al. Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve. Eur J Neurosci 2002;16:795-806.
21. Nagy JI, Rash JE. Connexins and gap junctions of astrocytes and oligodendrocytes in the CNS. Brain Res Rev 2000;32:29-44.
22. Loddenkemper T, Grote K, Evers S, Oelerich M, Stoghauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002;249:584-595.
23. Odermatt B, Wellershaus K, Wallraff A, et al. Connexin 47 (cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of cx47 and display vacuolized myelin in the CNS. J Neurosci 2003;23:4549-4559.
24. Menichella DM, Goodenough DA, Sirkowski E, Scherer SS, Paul DL. Connexins are critical for normal myelination in the CNS. J Neurosci 2003;23:5963-5973.
25. Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-418.
26. Marques W, Sweeney MG, Wood NW, Wroe SJ. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. J Neurol Neurosurg Psychiatry 1999;66:803-804.
27. Bell C, Willison H, Clark C, Haites N. CNS abnormalities in a family with a connexin32 mutation and peripheral neuropathy. Eur J Hum Genet 1996;4:S136.