OCR Text |
Show Toumal of C/ inirnl Neuro- ophthalmology 9( 41; 247- 248, 1989. Editorial Comment Creutzfeldt- Jakob Disease and the Ophthalmologist Purvin et al. ( 1) describe a patient in whom palinopsia was the presenting symptom of Creutzfeldt- Jakob disease, and this adds another neuro- ophthalmological manifestation to the list of visual and oculomotor disturbances encountered in this mysterious malady that usually begins in the second half of life with one of the following presentations: ( a) Dementia, concomitant pyramidal, and extrapyramidal signs are frequently found. ( b) Cerebellar ataxia. Various ocular motility disturbances can be detected; vertical supranuclear gaze palsy has been reported ( 2) and also observed by us as an initial manifestation. ( c) Visual cortical disturbances. Field defects and visual agnosia may progress to cortical blindness. The case reported in this issue belongs to this form, also named the Heidenhain variant. Whatever the initial manifestations, within several weeks or months the patient's condition deteriorates rapidly to a state of akinetic mutism; widespread myoclonic jerks appear, and the electroencephalogram shows characteristic periodic discharges of triphasic waves every 1- 2 s, mistaken occasionally for electrocardiographic artifacts. Most patients die within 10 months, but a fulminant course of a few weeks is no rarity. Microscopic examination of the brain reveals neuronal loss, astrocytosis, and the characteristic spongy degeneration, consisting of intracellular vacuoles, especially in the gray matter. Similar pathological changes are found in some other diseases, collectively termed spongiform encephalopathies. The important representatives are scrapie in sheep and kuru and Creutzfeldt- Jakob disease in humans. " Subacute spongiform encephalopathy" described by Nevin et al. ( 3) and attributed by them to ischemia is regarded as identical with Creutzfeldt- Jakob disease ( 4). Veterinarians observed that scrapie can be transmitted to other sheep with long incubation periods 247 © 1989 Raven Press, Ltd., New York of about a year and introduced the term " slow virus infection," also characterized by the absence of inflammatory and immune responses ( 5). The first human disease proved by Gajdusek et al. ( 6) to be of this kind and transmitted to chimpanzees was kuru, endemic in New Guinea and having the unusual mode of transmission by ritual cannibalism of the deceased. Creutzfeldt- Jakob disease, regarded then as a degenerative disease, was transmitted to chimpanzees in 1968 ( 7). Gajdusek received the Nobel prize for his achievements in 1976. The transmissible agent, though previously referred to as " slow virus," actually did not show features of a virus. It is resistant to conventional methods of sterilization including boiling, regular autoclaving, ultraviolet light, Lysol, tincture of iodine, and prolonged exposure to formalin. Moreover, it is composed of protein and does not contain nucleic acids, DNA, or RNA. Prusiner coined the name " prion" for these proteinaceous infectious particles ( 8- 10). The idea of infectious proteins is quite revolutionary; it remains to be explained how the prion replicates without nucleic acids. Even more perplexing is that the prion protein is probably an abnormal isoform of a protein found normally in cell membranes. The gene coding the protein has been compared to an oncogene. The incidence of Creutzfeld t- Jakob disease worldwide is about one per million. An exceptionally high incidence of 31 per million exists among Libyan- born Jews who have immigrated to Israel ( 4,11). They also have high familial clustering ( 12). Awareness of the disease in Israel is such that practically every Libyan patient with unspecified progressive neurological disease is suspected to harbor it. Genetic susceptibility may be the explanation for the high incidence and famqial clustering. A relatively high incidence has also been re- 248 EDITORIAL COMMENT ported among immigrants from North Africa to France, but the situation in Libya itself and in other North African countries is unknown. The natural mode of acquisition of the disease is unknown. There is no convincing evidence for person- to- person transmission, and there is no proof of environmental factors such as exposure to serapie. Iatrogenic transmission is well documented by corneal transplantation ( 13,14), intracerebral electrodes ( 15), and possibly by cadaveric dura mater grafts ( 16). Children treated with growth hormone extracts from cadaveric pituitary glands manifested signs of Creutzfeldt- Jakob disease decades thereafter ( 17). Consequently, no corneal or any other transplants should be taken from patients dying with dementia of uncertain cause. It has been suggested that the disease might even be transmitted by a tonometer measuring intraocular pressure ( 18). Previous trauma to the head and neck and operations have been listed as possible risk factors, probably by activating the dormant infectious agent ( 18). The balloon angioplasty that the patient of Purvin et al. underwent 2 years prior to his illness may thus be relevant. Y. Goldhammer, M. D. Department of Neurology Sheba Medical Center, Tel- Hashomer Sackler School of Medicine Tel- Aviv University Tel- Aviv, Israel REFERENCES 1. Purvin V, Bonnin J, Goodman J. Palinopsia as a presenting manifestation of Creutzfeldt- Jakob disease. 1 Clin Neuroophthalmol 1989; 9: 242- 6. JClin Neuro- ophLlwimol, Vol. 9, No. 4, 1989 2. Bertoni JM, Label LS, Sackelleres CHicks SP. Supranuclear gaze palsy in familial Creutzfeldt- Jakob disease. Arch NeuroI1983; 40: 618- 22. 3. Nevin S, McMenemey WH, Behrman S, Jones DP. Subacute spongiform encephalopathy- a subacute form of encephalopathy attributable to vascular dysfunction ( spongiform cerebral atrophy). Brain 1960; 83: 519- 64. 4. Goldhammer Y, Bubis JL Sarova- Pinhas I, Braham J. Subacute spongiform encephalopathy and its relation to Creutzfeldt- Jakob disease: report of six cases. 1 Neural Neurosurg Psychiatry 1972; 35: 1- 10. 5. Sigurdsson B, Rida C. A chronic encephalitis of sheep with general remarks on infections which develop slowly and some of their special characteristics. Br Vet 11954; 110: 34154. 6. Gajdusek DC Gibbs q, Alpers M. Experimental transmission of a kuru- like syndrome to chimpanzees. Nature 1966; 209: 794- 6. 7. Gibbs q, Gajdusek DC Asher OM, et al. CreutzfeldtJakob disease ( spongiform encephalopathy): transmission to the chimpanzee. Science 1968; 161: 388- 9. 8. Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science 1982; 216: 136- 44. 9. Prusiner SB. Prions and neurodegenerative diseases. N Engll Med 1987; 317: 1571- 81. 10. Fields BN. Powerful prions? N Engll Med 1987; 317: 1597- 8. 11. Kahana E, Alter M, Braham L Sofer D. Creutzfeldt- Jakob disease: focus among Libyan Jews in Israel. Science 1974; 183: 183. 12. Neugut RH, Neugut AI. Kahana E, et al. Creutzfeldt- Jakob disease: familial clustering among Libyan- born Israelis. Neurology 1979; 29: 225- 31. 13. Duffy P, Wolf L Collins G, et al. Possible person- to- person transmission of Creutzfeldt- Jakob disease. N Engl 1 Med 1974; 290: 692. 14. DeVoe AG. Complications of keratoplasty. Am 1 Ophthalmol 1975; 79: 907- 12. 15. Bernoulli C Siegfried L Baumgartner G, et al. Danger of accidental person- to- person transmission of CreutzfeldtJakob disease by surgery. Lancet 1977; 1: 478- 9. 16. Thadani V, Penar PL, Partington L et al. Creutzfeldt- Jakob disease probably acquired from a cadaveric dura mater. 1 Neurosurg 1988; 69: 766- 9. 17. Brown P, Gajdusek DC Gibbs q, et al. Potential epidemic of Creutzfeldt- Jakob disease from human growth hormone therapy. N Engll Med 1985; 313: 729- 31. 18. Davanipour Z, Alter M, Sobel E, et al. Creutzfeldt- Jakob disease: possible medical risk factors. Neurology 1985; 35: 1483- 6. [VBcreutzfeldjacob] |