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Multimodal Electrophysiological Assessment of Ataxia Telangiectasia

Published online by Cambridge University Press:  18 September 2015

Margot J. Taylor  and
William J. Logan
Margot J. Taylor*
Affiliation:
Division of Neurology, Departments of Pediatrics and Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario
William J. Logan
Affiliation:
Division of Neurology, Departments of Pediatrics and Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario
*
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8.
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Summary:

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We report multimodal evoked response studies in eleven children with ataxia telangiectasia. The ABRs were normal in all but one patient despite the severity of the disorder. The SERs were abnormal in all of the patients, the waveforms being either absent or of delayed latency, the abnormalities were more marked in the older patients. Abnormal motor and sensory nerve conduction studies were also found in all but the younger few patients. Most notably, the VERs were abnormal in all but 2, the older patients had delayed VERs and most had small amplitude responses. The electrophysiological profile of ataxia telangiectasia patients on the multimodal evoked responses differs from that found in certain other degenerative ataxias studied and may have some diagnostic utility.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 10 , Issue 4 , November 1983 , pp. 261 - 265
Copyright
Copyright © Canadian Neurological Sciences Federation 1983

References

Baloh, R.W., Yee, R.D., Boder, E. (1978). Eye Movements in Ataxia Telangiectasia. Neurology 28: 1099–1104.CrossRefGoogle ScholarPubMed
Bird, T.D., Crill, W.E. (1981). Pattern-Reversal Visual Evoked Potentials in the Hereditary Ataxias and Spinal Degenerations. Ann. Neurol. 9: 243–250.CrossRefGoogle ScholarPubMed
Boder, E., Sedgwich, R.P. (1957). A Familial Syndrome of Progressive Cerebellar Ataxia Oculocutaneous Telangiectasia, and Frequent Pulmonary Infection. A Preliminary Report on 7 Children, and Autopsy, and a Case History. University of Southern California Medical Bulletin 9: 15–22.Google Scholar
Bouchard, J.P., Barbeau, A., Bouchard, R., Bouchard, R.W. (1979). Electromyography and Nerve Conduction Studies in Friedreich’s Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Can. J. Neurol. Sci. 6: 185–189.CrossRefGoogle ScholarPubMed
Carroll, W.M., Kriss, A., Baraitser, M., Barrett, G., Halliday, A.M. (1980). The Incidence and Nature of Visual Pathway Involvement in Friedreich’s Ataxia. A Clinical and Visual Evoked Potential Study of 22 Patients. Brain 103: 413–434.CrossRefGoogle ScholarPubMed
Jones, S.J., Baraitser, M., Halliday, A.M. (1980). Peripheral and Central Somatosensory Nerve Conduction Defects in Friedreich’s Ataxia. J. Neurol., Neurosur., and Psychiatry 43: 495–503.Google ScholarPubMed
Kirkham, T.H., Coupland, S.G. (1981). An Electroretinal and Visual Evoked Potential Study in Friedreich’s Ataxia. Can. J. Neurol. Sci. 8: 289–294.CrossRefGoogle ScholarPubMed
Livingstone, I.R., Mastaglia, F.L., Edis, R., Howe, J.W. (1981). Visual Involvement in Friedreich’s Ataxia and Hereditary Spastic Ataxia. Arch. Neurol. 38: 75–79.CrossRefGoogle ScholarPubMed
Martinez, A-Cruz, Bariro, M., Gutierrez, A.M., Lopez, E. (1976). Abnormalities in Sensory and Mixed Evoked Potentials in Ataxia Telangiectasia. J. Neur., Neurosur., and Psychiatry 40: 44–49.CrossRefGoogle Scholar
Noel, P., Desmedt, J.E. (1980). Cerebral and Far-Field Somatosensory Evoked Potentials in Neurological Disorders Involving the Cervical Spinal Cord, Brainstem, Thalamus and Cortex. Prog. Clin. Neurophysiol. 7: 205–230.Google Scholar
Nuwer, M.R., Perlman, S.L., Packwood, J.W., Kark, R.A.P. (1983). Evoked Potential Abnormalities in the Various Inherited Ataxias. Ann. Neurol., 13: 20–27.CrossRefGoogle ScholarPubMed
Oh, S.J., Halsey, J.H. (Jr.) (1973). Abnormality in Nerve Potentials in Friedreich’s Ataxia. Neurology 23: 52–54.CrossRefGoogle Scholar
Oppenheimer, D.R. (1979). Brain Lesions in Friedreich’s Ataxia. Can. J. Neurol. Sci. 6: 173–176.CrossRefGoogle ScholarPubMed
Pedersen, L., Trojaborg, W. (1981). Visual, Auditory and Somatosensory Pathway Involvement in Hereditary Cerebellar Ataxia, Friedreich’s Ataxia and Familial Spastic Paraplegia. Electroenceph and Clinical Neurophys. 52: 283–297.CrossRefGoogle ScholarPubMed
Sauer, M., Schenck, E. (1977). Electrophysiologic Investigations in Freidreich’s Heredoataxia and in Hereditary Motor and Sensory Neuropathy. Electrograph. and Clinical Neurophys. 43: 623.Google Scholar
Satya-Murti, S., Cacace, A., Hanson, P. (1980). Auditory Dysfunction in Friedreich Ataxia: Result of Spiral Ganglion Degeneration. Neurology 30: 1047–1053.Google ScholarPubMed
Shanon, E., Himelfarb, M.Z., Gold, S. (1981). Auditory Function in Friedreich’s Ataxia. Electrophysiologic Study of a Family. Arch Otolaryngol 107: 254–256.CrossRefGoogle ScholarPubMed
Taylor, M.J. (1983). Auditory Brainstem Responses in Friedreich’s Ataxia. Letter to the Editor. Ann. Neurol., in press.CrossRefGoogle Scholar
Taylor, M.J., McMenamin, J.B., Andermann, E., Watters, G.V. (1982). Electrophysiological Investigation of the Auditory System in Friedreich’s Ataxia. Can. J. Neurol. Sci. 9: 131–135.Google ScholarPubMed