Creutzfeldt-Jakob disease: a survey of 14 patients

Marchiori, Paulo E.; Yasuda, Noboru; Azevedo, Helga C. A.; Órfão, Mônica; Callegaro, Dagoberto; Yamamoto, Fábio I.; Scaff, Milberto

doi:10.1590/S0004-282X1996000400005

Abstracts

Creutzfeldt-Jakob disease (CJD) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, myoclonic jerks, and periodic EEG activity. Fourteen patients (7 females and 7 males) ranging from 26 to 76 years of age (median 59 years) were evaluated between 1974 and 1995 at the Neurologic Clinic of São Paulo University School of Medicine. The average duration of the disease was 12 months (3.5 - 34 months). Early clinical findings were: behaviour changes in 7 patients, dementia in 4, visual disturbances in 4, vertigo in 2, tremor in 9, and dystonia in one. Advanced symptoms were dementia and myoclonus in all patients. Pyramidal tract dysfunction was found in 6, cerebellar ataxia in 2, seizures in 3, nystagmus and vertigo in 4, and peripheral nervous system involvement in 2. Atypical clinical forms were found in 5 patients. Periodic EEG activity was found in 10 patients. Cerebrospinal fluid evaluation showed pleocytosis in 1 patient, higher protein content in 2, and higher gamma globulin level in 2. In 10 patients anatomopathological evidence in the central nervous system confirmed the clinical diagnosis by presenting with status spongiosus. All except one patient presented with the sporadic form of the disease.

prion disease; Creutzfeldt-Jakob disease; spongiform encephalopathy

As encefalopatias espongiformes humanas ou doenças priônicas são um grupo de doenças rapidamente progressivas caracterizadas por déficit cognitivo, ataxia, mioclonia e manifestações visuais, piramidais e extrapiramidais. A doença de Creutzfeldt-Jakob (DCT) pode apresentar forma iatrogênica, genética e esporádica. Os autores apresentam 14 pacientes com DCJ forma esporádica e um com forma familial, acompanhados na Disciplina de Neurologia Clínica da FMUSP, no período de 1974 a 1995. Sete eram do sexo feminino e 7 do sexo masculino, com idade variando de 26 a 76 anos (média de 59 anos). As manifestações neurológicas iniciais foram distúrbio do comportamento em 7, demência em 4, deficiência visual em 4, vertigens em 2, tremor em 9 e distonia em um paciente. Posteriormente, demência e mioclonias ocorreram em todos os pacientes. Foram encontrados: disfunção do trato piramidal em 6, vertigens em 4, convulsões em 3, ataxia cerebelar em 2, distúrbio do sistema nervoso periférico em 2. A forma atípica da doença ocorreu em 5 pacientes. Atividade periódica ao eletroencefalograma ocorreu em 10 pacientes. O líquido cefalorraquidiano mostrou pleocitose em 1, hiperproteinorraquia em 2 e hipergamaglobulinorraquia em 2. O estudo anátomo-patológico do sistema nervoso central, feito em 10, revelou alterações vacuolares do neurópilo em todos os pacientes.

prions; doença de Creutzfeldt-Jakob; encefalopatia espongiforme

Creutzfeldt-Jakob disease: a survey of 14 patients

Doença de Creutzfeldt-Jakob: relato de 14 pacientes

Paulo E. Marchiori^I; Noboru Yasuda^II; Helga C. A. Azevedo^III; Mônica Órfão^III; Dagoberto Callegaro^II; Fábio I. Yamamoto^II; Milberto Scaff^IV

^INeurologic Clinic of the São Paulo University Medical School (FMUSP): Associate Professor

^IINeurologic Clinic of the São Paulo University Medical School (FMUSP): Assistant

^IIINeurologic Clinic of the São Paulo University Medical School (FMUSP): Resident

^IVNeurologic Clinic of the São Paulo University Medical School (FMUSP): Full Professor

ABSTRACT

Creutzfeldt-Jakob disease (CJD) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, myoclonic jerks, and periodic EEG activity. Fourteen patients (7 females and 7 males) ranging from 26 to 76 years of age (median 59 years) were evaluated between 1974 and 1995 at the Neurologic Clinic of São Paulo University School of Medicine. The average duration of the disease was 12 months (3.5 - 34 months). Early clinical findings were: behaviour changes in 7 patients, dementia in 4, visual disturbances in 4, vertigo in 2, tremor in 9, and dystonia in one. Advanced symptoms were dementia and myoclonus in all patients. Pyramidal tract dysfunction was found in 6, cerebellar ataxia in 2, seizures in 3, nystagmus and vertigo in 4, and peripheral nervous system involvement in 2. Atypical clinical forms were found in 5 patients. Periodic EEG activity was found in 10 patients. Cerebrospinal fluid evaluation showed pleocytosis in 1 patient, higher protein content in 2, and higher gamma globulin level in 2. In 10 patients anatomopathological evidence in the central nervous system confirmed the clinical diagnosis by presenting with status spongiosus. All except one patient presented with the sporadic form of the disease.

Key words: prion disease, Creutzfeldt-Jakob disease, spongiform encephalopathy.

RESUMO

As encefalopatias espongiformes humanas ou doenças priônicas são um grupo de doenças rapidamente progressivas caracterizadas por déficit cognitivo, ataxia, mioclonia e manifestações visuais, piramidais e extrapiramidais. A doença de Creutzfeldt-Jakob (DCT) pode apresentar forma iatrogênica, genética e esporádica. Os autores apresentam 14 pacientes com DCJ forma esporádica e um com forma familial, acompanhados na Disciplina de Neurologia Clínica da FMUSP, no período de 1974 a 1995. Sete eram do sexo feminino e 7 do sexo masculino, com idade variando de 26 a 76 anos (média de 59 anos). As manifestações neurológicas iniciais foram distúrbio do comportamento em 7, demência em 4, deficiência visual em 4, vertigens em 2, tremor em 9 e distonia em um paciente. Posteriormente, demência e mioclonias ocorreram em todos os pacientes. Foram encontrados: disfunção do trato piramidal em 6, vertigens em 4, convulsões em 3, ataxia cerebelar em 2, distúrbio do sistema nervoso periférico em 2. A forma atípica da doença ocorreu em 5 pacientes. Atividade periódica ao eletroencefalograma ocorreu em 10 pacientes. O líquido cefalorraquidiano mostrou pleocitose em 1, hiperproteinorraquia em 2 e hipergamaglobulinorraquia em 2. O estudo anátomo-patológico do sistema nervoso central, feito em 10, revelou alterações vacuolares do neurópilo em todos os pacientes.

Palavras-chave: prions, doença de Creutzfeldt-Jakob, encefalopatia espongiforme.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Acknowledgements - We are greatful to Prof. Vicente Amato Neto and Dr Jacyr Pasternak for suggestions, to Eugenia Deheinzelin for English review.

Aceite: 18-julho-1996.

Dr. Paulo E. Marchiori - Clínica Neurológica, Hospital das Clínicas, FMUSP - Av. Enéas C. Aguiar 255 -01538-900 São Paulo SP - Brasil.

1. Allen IV, Dermott E, Connolly JH, Hurvitz LI. A study of a patient with the amyotrophic form of Creutzfeldt-Jakob disease. Brain 1971;94:715-729.
2. Alphovitch A, Brow P, Weber T, et al. Incidence of Cretuzfeldt-Jakob disease in Europe in 1993. Lancet 1993;343:918.
3. Bernoulli C, Siegfridd J, Baungartner G et al. Danger of acidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery. Lancet 1977;1:478-479.
4. Bertolucci PHF, Malheiros SF. Hiperparatireoidismo simulando doença de Jakob-Creutzfeldt. Arq Neuropsiquiatr 1990;48:245-249.
5. Brown P. The phenotipic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neuro (Paris) 1992;148:317-327.
6. Brown P, Cathala F, Castaogme P, Gajdusek DC. Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann Neurol 1986;20:597-602.
7. Chapman AH, Silva DV. Creutzfeldt-Jokob disease. Arq Neuropsiquiatr 1993;5:258-266.
8. Chapman J, Brown P, Goldfarb LG et al. Clinical heterogeneity and unusual presentation of Creutzfeldt-Jakob disease in Jewish patients with PRNF codon 200 mutation. J Neurol Neurosurg Psychiatry 1993;56:1009-1112.
9. Cathala F, Brown P, Castaigne P, Gajdusek DC. Le mal adie de Creutzfeldt-Jakob en France Continentale: etude retrospective de 1968-1977. Rev Neurol (Paris) 1979;135:439-454.
10. De Armond SJ. Alzheimer's disease and Creutzfeldt-Jakob disease: overlap of pathogenic mechanisms. Curr Opin Neurol 1993;6:872-881.
11. Duffy P, Wolf J, Collins G, Dewe A, Steeten B, Cowen D. Possible person-to-person transmission of Creutzfeldt-Jakob disease. N Engl J Med 1974;290:692-693.
12. Foncin JF, Gaches J, Cathala F, El Sherif E, Le Beau J. Transmission iatrogène interhumaine possible de maladie de Creutzfeldt-Jakob avec atteinte des grains du cervelet. Rev Neurol (Paris) 1980;136:280.
13. Goldfarb LG, Brown P. The transmissible spongiform encephalopathies. Annu Rev Med 1995:46:57-65.
14. Gomori AJ, Partnow MJ, Horoupian DS, Hirono A. The ataxic form of Creutzfeldt-Jakob disease. Arch Neurol 1993;29:318-323.
15. Masters, 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.
16. Matthews WB. Creutzfeldt-Jakob disease. In Frederiks JAM (ed.). Handbook of Clinical Neurology. Vol.2 (46). Amsterdam Elsevier, 1985:289-299.
17. Pinsski L, Finlayson MH, Libman I, Scott BH. Familial amyotrophic lateral sclerosis with dementia: a second Canadian family. Clin Genet 1975;7:289-299.
18. Prusiner SB. Dementia caused by prion diseases. Annual Meeting of the American Academy of Neurology 1992;444:45-74.
19. Prusiner S. The prion disease. Sci Am 1995 ;272:29-37.
20. Prusiner SB, Hsiao KK, Bredesen DE, De Armond SJ. Prion disease. In Mckendall RE (ed.). Handbook of Clinical Neurology. Vol.12 (56). Amsterdam, Elsevier, 1989;543-580.
21. Ravilochan K, Tyler KL. Human transmissible neurodegenerative disease (prion diseases). Semin Neurol 1992;12:178-192.
22. Rosenthal NP, Keesey J, Grandall B, Brown J. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol 1976;33:252-259.
23. Salazar AM, Masters CL, Gajdusek DC, Gibbs CJ. Syndromes of amyotrophic lateral sclerosis and dementia: relation to transmissible Creutzfeldt-Jakob disease. Ann Neurol 1983;14:26.
24. Scully RE, Mark EJ, McNelly WF, McNelly BU. Case records of the Massachusetts General Hospital. N Engl J Med 1993;328:1259-265.
25. Sethi KF, Hess DC. Creutzfeldt-Jakob disease presenting with ataxia and movement disorders. Mov Dis 1991:6:157-162.
26. Stahl N, Prusiner SB. Prions and prion proteins. FASEB J 1991 ;5:2799-2807.
27. Traub R, Gajdusek DC, Gibbs CJ Jr. Transmissible virus dementia: the relation of transmissible spongiform encephalopathy to Creutzfeldt-Jakob disease. In Smith WL, Kinsbourne M (eds.). Aging Dementia. New York: Spectrum, 1973:91-146.
28. Tsuji S, Kuroiwa Y. Creutzfeldt-Jakob disease in Japan. Neurology 1983;33:1503-1506.
29. Will RG. The spongiform encephalopathies. J Neurol Neurosurg Psychiatry 1991:54:761-763.
30. Will RG, Mathews WB. A retrospective study of Creutzfeldt-Jakob disease in England and Walks 1970-79. I - Clinical features. J Neurol Neurosurg Psychiatry 1984;47:134-140.
31. Yasuda N. Doença de Creutzfeldt-Jakob: estudo clínico de sete casos. Tese. Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1981.

Publication Dates

Publication in this collection
12 Nov 2010
Date of issue
Dec 1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Allen IV, Dermott E, Connolly JH, Hurvitz LI. A study of a patient with the amyotrophic form of Creutzfeldt-Jakob disease. Brain 1971;94:715-729.

[2] 2. Alphovitch A, Brow P, Weber T, et al. Incidence of Cretuzfeldt-Jakob disease in Europe in 1993. Lancet 1993;343:918.

[3] 3. Bernoulli C, Siegfridd J, Baungartner G et al. Danger of acidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery. Lancet 1977;1:478-479.

[4] 4. Bertolucci PHF, Malheiros SF. Hiperparatireoidismo simulando doença de Jakob-Creutzfeldt. Arq Neuropsiquiatr 1990;48:245-249.

[5] 5. Brown P. The phenotipic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neuro (Paris) 1992;148:317-327.

[6] 6. Brown P, Cathala F, Castaogme P, Gajdusek DC. Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann Neurol 1986;20:597-602.

[7] 7. Chapman AH, Silva DV. Creutzfeldt-Jokob disease. Arq Neuropsiquiatr 1993;5:258-266.

[8] 8. Chapman J, Brown P, Goldfarb LG et al. Clinical heterogeneity and unusual presentation of Creutzfeldt-Jakob disease in Jewish patients with PRNF codon 200 mutation. J Neurol Neurosurg Psychiatry 1993;56:1009-1112.

[9] 9. Cathala F, Brown P, Castaigne P, Gajdusek DC. Le mal adie de Creutzfeldt-Jakob en France Continentale: etude retrospective de 1968-1977. Rev Neurol (Paris) 1979;135:439-454.

[10] 10. De Armond SJ. Alzheimer's disease and Creutzfeldt-Jakob disease: overlap of pathogenic mechanisms. Curr Opin Neurol 1993;6:872-881.

[11] 11. Duffy P, Wolf J, Collins G, Dewe A, Steeten B, Cowen D. Possible person-to-person transmission of Creutzfeldt-Jakob disease. N Engl J Med 1974;290:692-693.

[12] 12. Foncin JF, Gaches J, Cathala F, El Sherif E, Le Beau J. Transmission iatrogène interhumaine possible de maladie de Creutzfeldt-Jakob avec atteinte des grains du cervelet. Rev Neurol (Paris) 1980;136:280.

[13] 13. Goldfarb LG, Brown P. The transmissible spongiform encephalopathies. Annu Rev Med 1995:46:57-65.

[14] 14. Gomori AJ, Partnow MJ, Horoupian DS, Hirono A. The ataxic form of Creutzfeldt-Jakob disease. Arch Neurol 1993;29:318-323.

[15] 15. Masters, 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.

[16] 16. Matthews WB. Creutzfeldt-Jakob disease. In Frederiks JAM (ed.). Handbook of Clinical Neurology. Vol.2 (46). Amsterdam Elsevier, 1985:289-299.

[17] 17. Pinsski L, Finlayson MH, Libman I, Scott BH. Familial amyotrophic lateral sclerosis with dementia: a second Canadian family. Clin Genet 1975;7:289-299.

[18] 18. Prusiner SB. Dementia caused by prion diseases. Annual Meeting of the American Academy of Neurology 1992;444:45-74.

[19] 19. Prusiner S. The prion disease. Sci Am 1995 ;272:29-37.

[20] 20. Prusiner SB, Hsiao KK, Bredesen DE, De Armond SJ. Prion disease. In Mckendall RE (ed.). Handbook of Clinical Neurology. Vol.12 (56). Amsterdam, Elsevier, 1989;543-580.

[21] 21. Ravilochan K, Tyler KL. Human transmissible neurodegenerative disease (prion diseases). Semin Neurol 1992;12:178-192.

[22] 22. Rosenthal NP, Keesey J, Grandall B, Brown J. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol 1976;33:252-259.

[23] 23. Salazar AM, Masters CL, Gajdusek DC, Gibbs CJ. Syndromes of amyotrophic lateral sclerosis and dementia: relation to transmissible Creutzfeldt-Jakob disease. Ann Neurol 1983;14:26.

[24] 24. Scully RE, Mark EJ, McNelly WF, McNelly BU. Case records of the Massachusetts General Hospital. N Engl J Med 1993;328:1259-265.

[25] 25. Sethi KF, Hess DC. Creutzfeldt-Jakob disease presenting with ataxia and movement disorders. Mov Dis 1991:6:157-162.

[26] 26. Stahl N, Prusiner SB. Prions and prion proteins. FASEB J 1991 ;5:2799-2807.

[27] 27. Traub R, Gajdusek DC, Gibbs CJ Jr. Transmissible virus dementia: the relation of transmissible spongiform encephalopathy to Creutzfeldt-Jakob disease. In Smith WL, Kinsbourne M (eds.). Aging Dementia. New York: Spectrum, 1973:91-146.

[28] 28. Tsuji S, Kuroiwa Y. Creutzfeldt-Jakob disease in Japan. Neurology 1983;33:1503-1506.

[29] 29. Will RG. The spongiform encephalopathies. J Neurol Neurosurg Psychiatry 1991:54:761-763.

[30] 30. Will RG, Mathews WB. A retrospective study of Creutzfeldt-Jakob disease in England and Walks 1970-79. I - Clinical features. J Neurol Neurosurg Psychiatry 1984;47:134-140.

[31] 31. Yasuda N. Doença de Creutzfeldt-Jakob: estudo clínico de sete casos. Tese. Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1981.