Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

Journal of Neurology Neurosurgery and Psychiatry

Volumn 66, Issue 2, 1999, Pages 202-206

  Bahr, M ^a   Andres, F ^a   Timmerman, V ^b   Nelis, M E ^b   Van Broeckhoven, C ^b   Dichgans, J ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Central motor conduction velocity; CMT1X; Connexin 32; Peripheral neuropathy; Transcranial magnetic stimulation; Visual evoked potentials

Indexed keywords

CONNEXIN 32;

AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY NERVOUS SYSTEM; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; ELECTROPHYSIOLOGY; EVOKED AUDITORY RESPONSE; EVOKED MUSCLE RESPONSE; EVOKED VISUAL RESPONSE; FAMILY STUDY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; VISUAL NERVOUS SYSTEM;

EID: 0032961829     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.66.2.202     Document Type: Article

References (22)

1. Chance PF, Fischbeck KH. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum Mol Genet 1994;3:1503-7.
2. Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral neuropathy, 3rd ed. Philadelphia: WB Saunders Compagny, 1993;1094-136.
3. Thomas PK, King RHM, Small JR, et al. The pathology of Charcot-Marie-Tooth disease and related disorders. Neuropath Appl Neurobiol 1996;22:269-84.
4. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980;17:329-36.
5. Ionasescu VV. X-linked Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 1995;18:267-75.
6. De Jonghe P, Timmerman V, Nelis E, et al. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripheral Nervous Syst 1997;2:370-87.
7. Bennett MVL, Barrio TA, Spray DC, et al. Gap junctions: new tools, new answers, new questions. Neuron 1991;6: 305-20.
8. Nadarajah B, Thomaidou D, Evans WH, et al. Gap junctions in the adult cerebral cortex: regional differences in their distribution and cellular expression of connexins. J Comp Neurol 1996;376:326-42.
9. Dermietzel R, Farooq M, Kessler JA, et al. Oligodendrocytes express gap junction proteins Connexin 32 and Connexin 45. Glia 1997;20:101-14.
10. Li J, Hertzberg EL, Nagy JI. Connexin 32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain. J Comp Neurol 1997;379:571-91.
11. Nelis E, Simokovic S, Timmermann V, et al. Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type I: identification of five new mutations. Hum Mutation 1997;2:47-52.
12. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993; 262:2039-42.
13. Stöhr M, Dichgans J, Bueltner VW, Hess CW, Altenmüller, eds. Evoked potentials. Berlin: Springer Verlag 1996;3:289.
14. Carroll WM, Jones SJ, Halliday AM. Visual evoked potential abnormalities in linked Charcot-Marie-Tooth disease and comparison with Friedreich's ataxia. J Neurol Sci 1983;61:123-33.
15. Jones SJ, Carroll WM, Halliday AM. Peripheral and central sensory conduction in Charcot-Marie-Tooth disease and comparison with Friedreich's ataxia J Neurol Sci 1983;61: 135-48.
16. Scaioli V, Pareyson D, Avanzini G, et al. F response and somatosensory and brainstem auditory evoked potential studies in HMSN type I and II. J Neurol Neurosurg Psychiatry 1992;55:1027-31.
17. 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;61:43-6.
18. Bell C, Willison H, Clark C, et al. CNS abnormalities in a family with a connexin 32 mutation and peripheral neuropathy. Eur J Hum Genet 1996;4(suppl 1):136.
19. Hahn AF, Brown WF, Koopman WJ, et al. X-linked dominant hereditary motor and sensory polyneuropathy. Brain 1990;113:1511-25.
20. Dermietzel R, Spray DC. Gap junctions in the brain: where, what type, how many and why? Trends Neurol Sci 1993;16: 186-92.
21. Bruzzone R, White TW, Scherer SS, et al. Null mutations of connexin 32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 1994;13:1253-60.
22. Janssen EAM, Kemp S, Hensels GW, et al. Connexin 32 mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet 1997;99:501-5.