A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

Neurology

Volumn 76, Issue 5, 2011, Pages 461-466

  Yiu, E M ^a   Geevasinga, N ^b   Nicholson, G A ^b,c   Fagan, E R ^a   Ryan, M M ^b,d   Ouvrier, R A ^b,e  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c Department of Geriatric Medicine   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e University of Sydney   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; IMMUNOGLOBULIN;

ADOLESCENT; ANKLE SPRAIN; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; LIMB WEAKNESS; MALE; MOTOR DEVELOPMENT; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; NERVE BIOPSY; NERVE CONDUCTION; PATHOLOGIC FRACTURE; PEDIATRIC HOSPITAL; PEDIGREE; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SURAL NERVE; TREMOR; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME LINKED DISORDER; X LINKED CHARCOT MARIE TOOTH DISEASE;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INFANT, NEWBORN; MALE; RETROSPECTIVE STUDIES; SEX CHROMOSOME ABERRATIONS; SEX FACTORS;

EID: 79951505710     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31820a0ceb     Document Type: Article

References (30)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
2. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667.
3. Boerkoel CF, Takashima H, Lupski JR. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep 2002;2:70-77.
4. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042. (Pubitemid 24041884)
5. Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003;61: 1475-1478. (Pubitemid 37505564)
6. 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;61:43-46. (Pubitemid 26232026)
7. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1993;43:2558-2564. (Pubitemid 24004545)
8. Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001;124:1958-1967. (Pubitemid 32945897)
9. Hahn AF, Bolton CF, White CM, et al. Genotype/pheno-type correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann NY Acad Sci 1999;883:366-382. (Pubitemid 129495445)
10. Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ion-asescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve 1992;15:368-373.
11. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 1987;110:121-148. (Pubitemid 17011340)
12. Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM. Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. Pediatr Neurol 2008;38:293-295. (Pubitemid 351382131)
13. Yiu EM, Burns J, Ryan MM, Ouvrier RA. Neurophysio-logic abnormalities in children with Charcot-Marie-Tooth disease type 1A. J Peripher Nerv Syst 2008;13:236-241.
14. Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology 2006;67:2016-2021. (Pubitemid 44967380)
15. Burns J, Ouvrier RA, Nicholson GA, Ryan MM. Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscul Disord 2007;17: 349-350. (Pubitemid 46546522)
16. Ouvrier R, Geevasingha N, Ryan MM. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007;36: 131-143. (Pubitemid 47221851)
17. Birouk N, LeGuern E, Maisonobe T, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 1998;50:1074-1082. (Pubitemid 28212840)
18. Ryan MM, Jones HR Jr. CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor. Muscle Nerve 2005;31:528-530. (Pubitemid 40393101)
19. Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology 1999;52:1010-1014. (Pubitemid 29161612)
20. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6: 1605-1609. (Pubitemid 27397040)
21. 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;52:429-434.
22. Donahue HJ, Li Z, Zhou Z, Yellowley CE. Differentiation of human fetal osteoblastic cells and gap junctional intercellular communication. Am J Physiol Cell Physiol 2000; 278:C315-C322. (Pubitemid 30131148)
23. Jiang JX, Siller-Jackson AJ, Burra S. Roles of gap junctions and hemichannels in bone cell functions and in signal transmission of mechanical stress. Front Biosci 2007;12: 1450-1462. (Pubitemid 46850642)
24. Gutierrez A, England JD, Sumner AJ, et al. Unusual elec-trophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve 2000;23:182-188. (Pubitemid 30064939)
25. Kim H-J, Sohn K-M, Shy ME, et al. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate syn-thetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet 2007;81:552-558. (Pubitemid 47330213)
26. Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG. X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Hum Genet 1985;20:307-315. (Pubitemid 15168286)
27. Kim HJ, Hong SH, Ki CS, et al. A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. Neurology 2005;64:1964-1967. (Pubitemid 40800719)
28. Rosenberg RN, Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 1967; 17:827-832.
29. Beauvais K, Furby A, Latour P. Clinical, electrophysiolog-ical and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF/SIMPLE. Neuromuscul Disord 2006;16: 14-18. (Pubitemid 43089621)
30. Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R. Mutations of the noncoding region of the con-nexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996;47:541-544. (Pubitemid 26324057)