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 »  Introduction
 »  Material and methods
 »  Results
 »  Discussion
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Year : 2001  |  Volume : 49  |  Issue : 4  |  Page : 338-41

Creutzfeldt-Jakob disease : report of 10 cases from North India.


Department of Neurology, G.B. Pant Hospital, New Delhi-110002, India.

Correspondence Address:
Department of Neurology, G.B. Pant Hospital, New Delhi-110002, India.
[email protected]

  »  Abstract

Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.

How to cite this article:
Mehndiratta M M, Bajaj B K, Gupta M, Anand R, Tatke M, Seryam S, Nehru R, Puri V, Khwaja G A. Creutzfeldt-Jakob disease : report of 10 cases from North India. Neurol India 2001;49:338


How to cite this URL:
Mehndiratta M M, Bajaj B K, Gupta M, Anand R, Tatke M, Seryam S, Nehru R, Puri V, Khwaja G A. Creutzfeldt-Jakob disease : report of 10 cases from North India. Neurol India [serial online] 2001 [cited 2020 Nov 29];49:338. Available from: https://www.neurologyindia.com/text.asp?2001/49/4/338/1224




   »   Introduction Top

Creutzfeldt-Jakob disease (CJD) is a progressive degenerative disease of the nervous system characterised by dementia, myoclonic jerks and other inconstant neurologic signs caused by abnormal Creutzfeldt-Jakob disease (CJD) is a progressive accumulation and/ or metabolism of prion proteins.[1] It degenerative disease of the nervous system can occur in sporadic, infectious and/or familial forms. Five to 15% cases in all series were familial.
The incidence of CJD is higher in Israelis of Libyan origin and in immigrants to France from North Africa for unexplained reasons.[2],[3] No temporospatial clustering of cases has been noted in USA. Lack of uniform diagnostic criteria and zeal to have brain biopsy and clinical autopsies performed, is a limiting factor. Shankar and Satishchandra undertook registration and cataloguing of CJD cases in India and registered 69 cases over 30 years (1968-1997), reported from various parts of India.[4] Over the last 8 years, we encountered 10 cases of CJD at our center in North India. Some of them have been included in the CJD registry.


   »   Material and methods Top

Cases of CJD diagnosed on the basis of clinical, electrophysiological and or pathological parameters, admitted in G.B. Pant Hospital, New Delhi during the period 1990-1998 were included in this study. Selection criteria proposed by Master's et al was used to classify them into subgroups of definite, probable or possible CJD.[5] Details of place of residence, occupation, dietary habits, age at onset, duration of symptoms, history of any surgical procedure or head trauma, hypertension, exposure to drugs like lithium, toxins like bismuth, hormone replacement therapy and any relevant family history were recorded. History of dog bite and vaccination with Semple's vaccine for the same was not known in any of the cases. Routine investigations like complete haemogram, blood sugar, kidney function tests, liver function tests, urine (routine and microscopy), ECG and chest x-rays were carried out in all the patients. All the patients were subjected to CT scan and EEG. MRI scan wherever feasible was done and EEG was repeated if required. Only in three cases, the close relatives of the patient consented for diagnostic brain biopsy.


   »   Results Top

10 cases of CJD were admitted at our center during 1990 to 1998 (M: F=5:5). Two of these cases were definite cases, seven were probable cases and one case was an occipital variant of CJD (Heidenhein's disease). The average age of patients at the time of diagnosis was 53.80 (±7.32) years. The details of demographic and clinical data are given in the Tables I to III. None of our cases had known history of any surgical procedure, head trauma, hypertension, intake of lithium or any hormone replacement therapy. No history suggestive of exposure to toxins like bismuth was noted in any of the cases. CT scan showed cerebral atrophy in 3 patients and was normal in others. Diagnosis was confirmed by brain biopsy in two cases. Seven subjects belonged to the category of probable and one was a possible case of CJD, as they fulfilled clinical and electrophysiological criteria. In all, 13 EEGs were carried out. Case-8 (elder brother of case-7) had acute onset cortical blindness, unconsciousness and myoclonic jerks. He succumbed to the illness within 2 months of the onset and was possibly a Heidenhein's variant of CJD.


   »   Discussion Top

Various transmissible spongiform encephalopathies have been described in animals and humans. All of these have incubation period of months to years and eventually lead to death. These encephalopathies do not evoke immune response. One patient described by Creutzfeldt and three of the five patients described by Jakob would not meet present clinical or pathologic criteria for the disease.[6] The transmission of the disease by cerebral inoculation to experimental animals especially primates and induction of characteristic clinical and pathologic features in these animals has established the infective aetiology of this unconventional disease caused by prion proteins under the name of Creutzfeldt- Jakob disease.[7] The incidence of disease is 0.5 to 1.5 per million per year with little annual, seasonal or geographic variation. The clustering of cases has been explained by familial cases, which account for 5-15% of cases in different series. The disease usually presents in middle age, but one case of CJD in a 2 year old child was reported from Bombay.[8] Younger patients presenting with early psychiatric and behavioural manifestations have been reported from United Kingdom since 1994 and recently from some other European countries.[9],[10],[11] They subsequently developed cerebellar ataxia. However, these cases don't show characteristic EEG changes and pathological examination revealed prominent discreet prion protein plaques reminiscent of Kuru, more evident in cerebellum than cerebral cortex. These cases had been labeled as new variant CJD (nvCJD) and laboratory studies have provided evidence that the causative agent of the new variant CJD in humans and bovine spongiform encephalopathy have common origin.[12] No case of nvCJD has been reported from Indian subcontinent. Over 30 years (1968-1997), 69 cases of CJD were recorded in CJD registry at Bangalore, India. At our center, we encountered 10 cases including one occipital variant of CJD over last 8 years (1990-1998). The mean age of the patients was 53.80 (±7.32) and there were 5 females and 5 males. The most characteristic and constant sign in CJD is distal fast myoclonus, which was present in all the cases in our series. Abnormal behaviour with or without other features was the presenting complaint in 7/10 patients. One patient of CJD had cerebellar ataxia as the presenting feature. Elder brother of one of the patient's died of an acute illness. He had acute onset of cortical blindness, unconsciousness and myoclonic jerks and possibly had Heidenhein's form of CJD. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from onset to death was 6.60 (±6.11) months in our series. Mean survival of CJD patients reported in the literature is 5 months with over 80% of patients succumbing to the disease by 12 months of onset.[13],[14] Classical EEG changes were observed in all the patients ultimately before death except for one case where the records were not available. Steinhoff et al reported that periodic complexes show a sensitivity of 67% and specificity of 86% for detection of CJD.[15] More than 90% of patients may show periodic complexes if repeated EEG records are taken.[16] In our series, brain biopsy could be undertaken in only 3 cases (Case-1, 2 and 7); and in 2 of these the histological change diagnostic of subacute spongiform encephalopathy were noted. Although Case-7 had normal brain biopsy report, the clinical and electroencephalographic data was consistent with the diagnosis of CJD. Spongiform change in CJD on histology, is patchy in nature. Because of patchy nature of spongiform changes and the small size of biopsy tissue, the abnormality may not be apparent. Wide sampling of brain tissue may be required to confirm the pathological diagnosis.

Western blot test helps to detect prion protein and confirm the diagnosis. We did not have this facility available. Histological examination of brain and immunostaining for protease resistant protein (PrPres) are considered the gold standard for the diagnosis. The crucial features in CJD are spongiform change accompanied by neuronal loss and gliosis. Amyloid plaques are found in only 10% of sporadic cases only. Pathological diagnosis from peripheral tissue has been suggested by PrPres immunostaining of germinal center cells of tonsils from a patient with new variant CJD.[17]
If we take into account that India has a population of more than one billion and assuming an annual incidence of 0.5 per million population, probably there would be at least around 500 new cases of CJD annually in India. Greater awareness and high degree of suspicion only can give us the true scenario of this dreaded disease, for which no treatment is available till date.

 

  »   References Top

1.Johnson RT, Gibbs CJ : Creutzfeldt Jakob disease and related transmissible spongiform encephalopathies. N Eng J Med1998; 339 : 1994-2004.   Back to cited text no. 1    
2.Kahana E, Alter M, Braham J et al : Creutdzfeldt Jakob disease focus among Libyan Jews in Israel. Science 1974; 183 : 90-91.   Back to cited text no. 2    
3.Brown P, Cathala F, Rabertas RB et al: The epidemiology of Creutzfeldt Jakob disease. Conclusions of a 15 years investigation in France and review of the world literature. Neurology1987; 37 : 895-904.   Back to cited text no. 3    
4.Shankar SK, Satish Chandra P : Creutzfeldt-Jakob disease-Cases in India in 30 years (1968-1997). CJD Registry NIMHANS, Bangalore, India.   Back to cited text no. 4    
5.Master CL, Harris JO, Gajdusek DC et al : Creutzfeldt Jakob disease : Patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979; 5 :177-188.   Back to cited text no. 5    
6.Masters CL, Gajdusek DC : The spectrum of Creutzfeldt Jakob disease and the virus induced subacute spongiform encephalopathies. In : Recent advances in neuropathology. Smith WT, Cavanagh JB. No. 2. Edinburgh, Scotland: Churchill Livingstone,1982; 139-163.   Back to cited text no. 6    
7.Gibbs CJ Jr, Gajdusek DC, Asher DM et al : Creutzfeldt Jakob disease (spongiform encephalopathy) : transmission to chimpanzee. Science1968; 161 : 388-389.   Back to cited text no. 7    
8.Bubelis I, Desai AD, Deshpande D : Infantile Creutzfeldt Jakob disease. Neurol India1966; XIV : 53-56.   Back to cited text no. 8    
9.Will RG, Ironside JW, Zeidler M et al : A new variant of Creutzfeldt Jakob disease in UK. Lancet 1996; 347 : 921-925.   Back to cited text no. 9    
10.Zeidler M, Stewart GE, Barraclough CR et al : New variant Creutzfeldt Jakob disease: Neurological features and diagnostic tests. Lancet1997; 350 : 903-907.   Back to cited text no. 10    
11.Zeidler M, Johnstone EC, Bamber RWK, et al. New variant Creutzfeldt Jakob disease: Psychiatric features. Lancet 1997; 350 : 908-910.   Back to cited text no. 11    
12.Hill AF, Desbruslais M, Joiner S et al : The same prion strain causes vCJD and BSE. Nature 1997; 389 : 448-450.   Back to cited text no. 12    
13.Brown P, Gibbs CJ Jr, Rodgers-Johnson P et al : Human spongiform encephalopathy: The National Institute of Health series of 300 cases of experimentally transmitted disease. Ann Neurol1994; 35 : 513-529.   Back to cited text no. 13    
14.Will RG, Mathews WB : A retrospective study of Creutzfeldt Jakob disease in England and Wales 1970-79.I. Clinical features. J Neurol Neurosurg Psychiatry1984; 47 : 134-140.   Back to cited text no. 14    
15.Steinhoff BJ, Racker S, Herrendorf G et al : Accuracy and reliability of periodic sharp wave complexes in Creutzfeldt Jakob disease. Arch Neurol1996; 53 : 162-166.   Back to cited text no. 15    
16.Chiofalo N, Fuentes A, Galvez S : Serial EEG findings in 27 cases of Creutzfeldt Jakob disease. Arch Neurol 1980; 37 : 143-145.   Back to cited text no. 16    
17.Hill AF, Zeidler M, Ironside J et al : Diagnosis of new variant CJD by tonsillar biopsy. Lancet1997; 349 : 99-100.   Back to cited text no. 17    

 

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