A V139M mutation also causes the reversible CNS phenotype in CMTX

Canadian Journal of Neurological Sciences

Volumn 35, Issue 3, 2008, Pages 372-374

  Halbrich, Michelle ^a   Barnes, Jeffrey ^c   Bunge, Martin ^a   Joshi, Charuta ^b,d  

^a CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

^b Children's Hospital Winnipeg   (United States)

^c HEALTH SCIENCES CENTRE   (Canada)

^d UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIPHENHYDRAMINE; NALOXONE; PARACETAMOL;

ADOLESCENT; ARTICLE; ATAXIA; BULBAR PARALYSIS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; DYSARTHRIA; ELECTROMYOGRAPHY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOSPITAL DISCHARGE; HUMAN; MALE; MIGRAINE; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; WEAKNESS;

EID: 51349156222     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100008994     Document Type: Article

References (18)

1. Klein CJ. The inherited neuropathies. Neurol Clin. 2007; 25(1):173-207.
2. 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): 43-6.
3. Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, et al. Clinical and molecular studies in a family with probable X-linked dominant charcot-marie-tooth disease involving the central nervous system. Arch Neurol. 2001; 58(11):1891-6.
4. Marques W, Jr, Sweeney JG, Wood NW, Wroe SJ, Marques W. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. J Neurol Neurosurg Psychiatry. 1999; 66(6):803-4.
5. Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D. A V38A mutation in X-linked charcot-marie-tooth neuropathy with unusual clinical features. J Neurol. 2004; 251(2):222-3.
6. Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, et al. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked charcot-marie-tooth disease. Acta Neurol Scand. 2003; 107(1):31-7.
7. Kassubek J, Bretschneider V, Sperfeld AD. Corticospinal tract MRI hyperintensity in X-linked charcot-marie-tooth disease. J Clin Neurosci. 2005; 12(5):588-9.
8. Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, et al. A novel Cx32 mutation causes X-linked charcot-marie-tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. Neurol Sci. 2006; 27(1):18-23.
9. Basri R, Yabe I, Soma H, Matsushima M, Tsuji S, Sasaki H. X-linked charcot-marie-tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. Intern Med. 2007; 46(13):1023-7.
10. Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, et al. Transient central nervous system white matter abnormality in X-linked charcot-marie-tooth disease. Ann Neurol. 2002; 52(4):429-34.
11. Schelhaas HJ, Van Engelen BG, Gabreels-Festen AA, Hageman G, Vliegen JH, Van Der Knaap MS, et al. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology. 2002; 24:59(12):2007-8.
12. 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(10):1906-8.
13. 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(11):1475-8.
14. Isoardo G., Di Vito N, Nobile M, Benetton G, Fassio F. X-linked charcot-marie-tooth disease and progressive-relapsing central demyelinating disease. Neurology. 2005; 65(10):1672-3.
15. Parman Y, Ciftci F, Poyraz M, Halefoglu AM, Oge AE, Eraksoy M, et al. X-linked charcot-marie-tooth disease and multiple sclerosis. J Neurol. 2007; 254(7):953-5.
16. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, et al. Connexin mutations in X-linked charcot-marie-tooth disease. Science. 1993; 262(5142):2039-42.
17. 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(4):605-9.
18. Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, et al. Phenotypiac and cellular expression of two novel connexin mutations causing CMT1X. Neurology. 2006; 66:396-402.