Coexistent central and peripheral nervous system involvement in a charcot-marie-tooth syndrome X-linked patient

Journal of Child Neurology

Volumn 25, Issue 6, 2010, Pages 759-763

  Fusco, Carlo ^a   Frattini, Daniele ^a   Pisani, Francesco ^b   Spaggiari, Federica ^c   Ferlini, Alessandra ^c   Della Giustina, Elvio ^a  

^a Pediatric Neurology Unit   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

Author keywords

Charcot Marie Tooth X linked; Electromyography; White matter lesions

Indexed keywords

CONNEXIN 32; CORTICOSTEROID;

ACUTE DISEASE; ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DEMYELINATING DISEASE; DIAGNOSTIC ERROR; DRUG MEGADOSE; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; ENCEPHALOMYELITIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEURITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TREATMENT DURATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; ELECTRODIAGNOSIS; GAP JUNCTIONS; GENETIC DISEASES, X-LINKED; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PERIPHERAL NERVOUS SYSTEM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77952919228     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809344119     Document Type: Article

References (13)

1. Oh S., Ri Y., Bennet MV, Trexler EB, Verselis VK, Bargiello TA Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron. 1997 ; 19 (4). 927-938.
2. 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 (6). 1983-2000.
3. Ressot C., Bruzzone R. Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Review. 2000 ; 32 (1). 192-202.
4. Nicholson G., Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J Neurol Neurosurg Psychiatry. 1996 ; 61 (1). 43-46.
5. 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 (6). 947-948.
6. 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 (6). 746-754.
7. Kimura J. Assessment of individual nerves. In: Kimura J, ed. Electrodiagnosis in Disease of Nerve and Muscle: Principles and Practice. New York, NY: Oxford Press; 2001: 130-161.
8. Werner R., Rabadan-Diehl C., Dahl G. Affinities between connexins. In: Hall JE, Zamphighi GA, Davis RM, eds. Progress in Cell Research. New York, NY: Elsevier Science ; 1993: 21-24.
9. Lee MJ, Nelson I., Houlden H., et al. Six novel connexin 32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2002 ; 73 (3). 304-306.
10. Paulson HL, Garbern JY, Hoban TF, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol. 2002 ; 52 (4). 429-434.
11. Panas M., Kalfakis N., Karadimas C., Vassilopoulos D. Episode of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. Neurology. 2001 ; 57 (10). 1906-1908.
12. Ionasescu V., Ionasescu R., Searly C. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet. 1996 ; 63 (3). 486-491.
13. Schelhaas HJ, Van Engelen BG, Gabreëls-Festen A., et al. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology. 2002 ; 59 (12). 2007-2008.