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Electrophysiological Studies in Five Cases of Abetalipoproteinemia

Published online by Cambridge University Press:  18 September 2015

N.J. Lowry ,
M.J. Taylor ,
W. Belknapp  and
W.J. Logan
N.J. Lowry
Affiliation:
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto
M.J. Taylor
Affiliation:
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto
W. Belknapp
Affiliation:
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto
W.J. Logan
Affiliation:
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto
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Summary

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Auditory brainstem responses (ABRs), visual and somatosensory evoked responses (VEPs and SEPs) and nerve conduction studies were conducted in 5 patients with abetaiipoproteinemia. The ABRs were normal in all cases. The VEPs were of normal amplitude but of increased latencies in two patients. The four eldest patients had delayed cortical SEPs but normal peripheral sensory nerve conduction studies. The peripheral motor conduction velocities were normal in all cases. The peripheral sensory studies showed normal velocity when a response was seen; however, the amplitude of the response was often reduced or it was absent. The electrophysiological studies reported here support a model of axonal loss of large myelinated fibres with secondary demyelination in abetaiipoproteinemia.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 1 , February 1984 , pp. 60 - 63
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

References

Aziz, E., Zaidman, J.L., Eschar, J. and Azeinberg, A. (1978). Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium triglycerides. Acta. Pediatr. Scand., 67:797–801.CrossRefGoogle Scholar
Bassen, F.A. and Kornzweig, A.L. (1950). Malformation of the erythrocyte in a case of a typical retinitis pigmentosa. Blood, 5:381–387.CrossRefGoogle Scholar
Bird, L.D. and Crill, W.E. (1981). Pattern-reversal visual evoked potentials in hereditary ataxias and spinal degenerations. Ann. Neurol., 9:243–250.CrossRefGoogle ScholarPubMed
Brin, M.F., Nelson, J.S., Roberts, W.C., Marquardt, M.D., Suswankosai, P.Petito, C.K. (1983). Neuropathology of Abetalipoproteinemia: A possible complication of the tocopherol (vitamin E)—deficient state. Neurology, 33:142–143.Google Scholar
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. Brain, 103:413–434.CrossRefGoogle ScholarPubMed
Dische, M.R. and Porro, R.S. (1970). The cardiac lesions is Bassen-Kornzweig syndrome. Report of a case. Am. J. Med., 49:568–599.Google ScholarPubMed
Dyck, P.J., Lambert, E.H., Nichols, P.C. (1971). Quantitative measurement of sensation related to compound action potential and number and sizes of myelinated and unmyelinated fibres of sural nerve in health, Friedreich’s ataxia, hereditary sensory neuropathy, and tabes dorsalis. In: Rémond, A. (ed.) Handbook of Electroencephalography and Clinical Neurophysiology, 9:83–117, Elsevier Publishing Co., Amsterdam.Google Scholar
Halliday, A.M. (1982). The visual evoked potential in the investigation of diseases of the optic nerve. In: Halliday, A.M. (ed.), Evoked Potentials in Clinical Testing, Churchill-Livingstone, London, 187–234.Google Scholar
Jones, S.J., Baraitser, M., Halliday, A.M. (1980). Peripheral and central somatosensory nerve conduction deficits in Friedreich’s ataxia. J. Neurol. Neurosurg. Psychiatry, 43:495–503.CrossRefGoogle Scholar
Kirkham, J.H. and Coupland, J.C. (1981). An electroretinal and visual evoked potential study in Friedreich’s ataxia. Can. J. Neurol. Sci., 8:289–294.CrossRefGoogle ScholarPubMed
Livingstone, J.R., Mastaglia, F.L., Edis, R., Howe, J.W. (1981). Visual involvement in Friedreich’s ataxia and in hereditary spastic ataxia. Arch. Neurol., 38:75–79.CrossRefGoogle ScholarPubMed
McLeod, J.G. (1971). An electrophysiological and pathological study of peripheral nerves in Friedreich’s ataxia. J. Neurol. Sci., 12:333–349.CrossRefGoogle ScholarPubMed
Miller, R.G., Davis, C.J.F., Illingworth, D.R., Bradley, W. (1980). The neuropathy of abetalipoproteinemia. Neurology, 30:1286–1291.CrossRefGoogle ScholarPubMed
Muller, D.P.R. and Lloyd, J.K. (1982). Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. Ann. N.Y. Acad, of Sci., 393:133–144.CrossRefGoogle ScholarPubMed
Muller, D.P.R., Lloyd, J. K., Bird, A.C. (1977). Long-term management of abetalipoproteinemia. Arch. Dis. Child., 52:209–214.CrossRefGoogle Scholar
Oppenheimer, D.R. (1979). Brain lesions in Friedreich’s ataxia. Can. J. Neurol. Sci., 6:173–176.CrossRefGoogle ScholarPubMed
Pedersen, L. and Trojaborg, W. (1981). Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich’s ataxia and familial spastic paraplegia. Electroencph. clin. Neurophysiol., 52:283–297.CrossRefGoogle ScholarPubMed
Peyronnard, J.M., Lapointe, L., Bouchard, J.P., Lamontagne, A., Lemeiux, B., Barbeau, A. (1976). Nerve conduction studies and electromyography in Friedreich’s ataxia. Can. J. Neurol. Sci., 3:313–317.CrossRefGoogle ScholarPubMed
Salt, H.B., Wolff, O.H., Lloyd, J.K., Eosbrooke, A.S., Cameron, A.H., Hubble, D.V. (1960). On having no beta-lipoprotein. A syndrome comprising beta-lipoproteinemia, acanthocytosis and steatorrhoea. Lancet, 13:325–329.CrossRefGoogle Scholar
Satya-Murti, S., Cocace, A., Hanson, P. (1980). Auditory dysfunction in Friedreich’s ataxia: Result of spiral ganglion degeneration. Neurology, 30:1047–1053.CrossRefGoogle ScholarPubMed
Sobrevilla, L.A., Goodman, M.L., Kane, C.A. (1964) Demyelinating central nervous system disease, muscular atrophy and acanthocytosis (Bassen-Kornweig syndrome). Am. J. Med., 37:821–899.CrossRefGoogle Scholar
Taylor, M.J.McMenamin, J.B., Andermann, E., Walters, G.V. (1982). Electrophysiological investigation of the auditory system in Friedreich’s ataxia. Can. J. Neurol. Sci., 9:131–135.CrossRefGoogle ScholarPubMed