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Longitudinal Multimodal Evoked Potential Studies in Abetalipoproteinaemia
Published online by Cambridge University Press: 18 September 2015
Abstract:
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Recent studies have reported that in abetalipoproteinaemia patients high dose vitamin E therapy may arrest or improve the neurological syndrome. Five patients with abetalipoproteinaemia have been followed since 1982, when all were started on high dose vitamin E therapy. Auditory brainstem responses (ABR), visual evoked potentials (VEP), and sensory evoked potentials (SEP) were recorded every six to twelve months. The vitamin E levels stayed below normal range in all patients; the neurological status remained relatively stable in most of the patients over the four years. The ABRs were consistently normal in all patients over the period of study. The VEPs improved in one patient with introduction of vitamin E therapy, and remained stable in the others, one of whom always had abnormal VEPs. The cortical SEPs were abnormal in all but the least affected patient and fluctuated in the two patients who also demonstrated some deterioration in neurological status. These results suggest that serial assessments combining neurological and neurophysiological studies provide important information in the follow-up of patients with abetalipoproteinaemia and that the SEP is the evoked potential best suited for the detection of the neurological changes in this disorder.
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References
1.Bassen, FA, Kornzweig, AL.Malformation of the Erythocyte in a case of atypical retinitis pigmentosa. Blood, 1950; 5: 381–387.CrossRefGoogle Scholar
2.Schwartz, JF, Rowland, LP, Eder, H, et al. Bassen-Kornzweig syndrome: deficiency of serum B-lipoprotein. Arch Neurol 1963; 8: 108–124.Google Scholar
3.Muller, DPR, Lloyd, JK, Bird, AC. Long term management of abetalipoproteinaemia. Arch Dis Child 1977; 52: 209–214.CrossRefGoogle ScholarPubMed
4.Muller, DPR, Lloyd, JK.Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinaemia. Ann NY Acad of Sci; 393: 133–144.CrossRefGoogle Scholar
5.Lowry, NJ, Taylor, MJ, Belknapp, W, et al. Electrophysiological studies in five cases of abetalipoproteinaemia. Can J Neurol Sci 1984; 11: 60–63.CrossRefGoogle Scholar
6.Herbert, PN, Assman, G, Gotto, AM, Frederickson, DS.Familial lipoprotein deficiency: abetalipoproteinaemia, hypobetalipopro-teinaemia, and Tangier disease. In: Stanbury, JB, Wyngaarden, JB, Frederickson, DS, Goldstein, JL, Brown, MS, eds. The Metabolic Basis of Inherited Disease, 5th ed. New York: McGraw-Hill 1983; 589–621.Google Scholar
7.Bishara, S, Merin, S, Cooper, M, et al. Combined vitamin A and E therapy prevents retinal deterioration in abetalipoproteinaemia. Brit J of Ophthalmol 1982; 66: 767:770.CrossRefGoogle Scholar
8.Harding, AE, Matthews, S, Jones, S, et al. Spinocerebellar degenera- tion associated with a selective defect of vitamin E absorption. New Eng J Med 1985; 313: 32–35.CrossRefGoogle Scholar
9.Werlin, SL, Harb, JM, Swick, H, Blank, E.Neuromuscular dysfunc- tion and ultrastructural pathology in children with chronic cholestasis and vitamin E deficiency. Ann Neurol 1963; 13: 291–296.CrossRefGoogle Scholar
10.Harding, AE, Muller, DPR, Thomas, PK, Willison, HJ. Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome. Ann Neurol 1982; 12: 419–424.CrossRefGoogle ScholarPubMed
11.Hegele, RA, Angel, A.Arrest of neuropathy and myopathy in abetalipoproteinaemia with high dose vitamin E therapy. Can Med Assoc J 1985; 132:41–44.Google ScholarPubMed
12.Brin, MF, Pedley, TA, Lovelace, RE, et al. Electrophysiologic features of abetalipoproteinaemia: functional consequences of vitamin E deficiency. Neurology 1986; 36: 669–674.CrossRefGoogle ScholarPubMed
13.Rosenblum, JL, Keating, JP, Prensky, AL, Nelson, JS.A progressive neurologic syndrome in patients with chronic liver disease. N Eng J Med 1981; 304: 503–508-.CrossRefGoogle Scholar
14.Nelson, JS, Fitch, CD, Fischer, VW, et al. Progressive neuropatho- logy lesions in vitamin E deficient rhesus monkeys. J Neuropath Exp Neurol 1981; 40: 166–186.CrossRefGoogle Scholar
15.Sung, JH, Park, SH, Mastri, AR, Warwick, WJ.Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucouiscidosis): beneficial effect of vitamin E therapy. J Neuropath Exp Neurol 1980; 39: 584–597.CrossRefGoogle ScholarPubMed
16.Dische, RM, Porro, RS.The cardiac lesions in Bassen-Kornzweig syndrome: report of a case with autopsy findings. Am J Med 1970; 49: 568–571.CrossRefGoogle ScholarPubMed
17.Miller, RG, Davis, CJF, Illingworth, R, Bradley, W.The neuropathy of abetalipoproteinaemia. Neurol 1980; 30: 1286–1291.CrossRefGoogle Scholar
18.Brin, MF, Nelson, JS, Roberts, WC, Marquardt, MD, Suswankosa, P, Petito, WC.Neuropathology of abetalipoproteinaemia: a possible complication of the tocopherol (vitamin E) deficient state. Neurol 1983 (suppl. 2); 33: 142–143.Google Scholar
19.Sobrevilla, LA, Goodman, ML, Kane, CA.Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome). Am J Med 1964; 37: 821–828.CrossRefGoogle ScholarPubMed
20.Johnson, SF.Somatosensory evoked potentials in abetalipopro- teinaemia. Electroenceph Clin Neurophysiol 1985; 60: 27–29.CrossRefGoogle Scholar
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