Friday, December 11, 2009

Sporadic Creutzfeldt-Jakob disease causing a 2-years slowly progressive isolated dementia

----- Original Message -----
From: Terry S. Singeltary Sr.
Sent: Friday, December 11, 2009 9:06 PM
Subject: Sporadic Creutzfeldt-Jakob disease causing a 2-years slowly progressive isolated dementia

Sporadic Creutzfeldt-Jakob disease causing a 2-years slowly progressive isolated dementia

Journal Behavioural Neurology Publisher IOS Press ISSN 0953-4180 (Print) 1875-8584 (Online) Issue Volume 21, Number 3-4 / 2009 DOI 10.3233/BEN-2009-0238 Pages 175-179 Subject Group Neurosciences

Authors Álvaro Machado1, Manuel Ribeiro2, Margarida Rodrigues1, Carla Ferreira1, Inês Baldeiras3, M. Helena Ribeiro3, Isabel Santana4, Rui Almeida5, Lígia Castro6, Stirling Carpenter6 1Neurology Department, Hospital de São Marcos, Braga, Portugal 2Neuroradiology Department, Hospital de São Marcos, Braga, Portugal 3Neurochemistry Laboratory, Hospitais da Universidade de Coimbra, Coimbra, Portugal 4Neurology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal 5Neurosurgery Department, Hospital de São Marcos, Braga, Portugal 6Pathology Department, Hospital de São João, Porto, Portugal


A 47-year-old woman was seen for progressive behavioural and cognitive disturbances slowly evolving over a 1-year period. Neuropsychological evaluation disclosed moderate to severe impairment of all cortical functions. Besides this no other clinical abnormality was found. MRI diffusion weighted imaging disclosed hyperintense cortical lesions in a ribbon-like fashion, with restricted diffusivity. EEG showed no periodic sharp waves and CSF examination was normal, including protein 14.3.3. She was heterozygote on codon 129. Her cognitive function continued to decline and she was readmitted for further investigation at the 24th month of disease. Again no ataxia or involuntary movements were observed. MRI disclosed widespread hyperintense lesions over the entire cortex and, for the first time, also caudato-putaminal hyperintensity in T2-weighted images. EEG again failed to show periodic activity. Stereotactic biopsy disclosed moderate spongiform changes, astrocytosis and perivacuolar staining with prion-directed antibodies. Western blot analysis revealed prion type 2 mobility pattern. We discuss the clinical significance of this case: as dementia was the sole finding, and this was slowly-evolving over a 2-year period, MRI findings were the key factor suggesting a prion disease in a woman that otherwise would probably be diagnosed with a primary degenerative dementia.

Keywords Creutzfeldt-Jacob disease, DWI, MV2, MRI, MRS, SPECT

Thursday, December 3, 2009


Eurosurveillance, Volume 10, Issue 25, 23 June 2005 Articles Direcção de Serviços de Informação e Análise, Direcção-Geral da Saúde1


Citation style for this article: Direcção de Serviços de Informação e Análise, Direcção-Geral da Saúde. First probable case of vCJD reported in Portugal. Euro Surveill. 2005;10(25):pii=2732. Available online:

Date of submission:


First probable case of vCJD reported in Portugal

Direcção de Serviços de Informação e Análise, Direcção-Geral da Saúde, Lisboa, Portugal

The Portuguese Direcção-Geral da Saúde (Directorate-Genearl for Health) was recently informed of the first probable case of variant Creutzfeldt-Jakob disease (vCJD) in Portugal, with laboratory evidence (tonsil biopsy) [1]. The patient is 12 year old boy currently living with his parents and receiving specialist medical care. The case meets the European and Allied Countries Collaborative Study Group of CJD’s (EUROCJD) definition of probable vCJD ( and has been confirmed by the United Kingdom’s National CJD Surveillance Unit. The patient does not have a history of travel to the United Kingdom.

References: 1.Direcção-Geral da Saúde. Variante da Doença de Creutzfeldt-Jakob - Comunicado. Press release, 9 June 2005.


Ministério da Saúde

Direcção-Geral da Saúde


A Direcção-Geral da Saúde foi recentemente notificada da existência de um

primeiro caso provável de variante da Doença de Creutzfeldt-Jakob (vDCJ), com

evidência laboratorial.

Como é do conhecimento público, casos desta doença têm sido diagnosticados em

diversos países da União Europeia.

Trata-se de um doente jovem do sexo masculino, residente no respectivo domicílio

com os pais, cuja identidade deve ser protegida por razões técnicas e éticas, tanto

mais que se trata de doença que não se transmite através de contactos pessoa a

pessoa, pelo que não constitui qualquer risco para os seus conviventes ou contactos.

O doente encontra-se com assistência médica especializada.

Não existem indícios de quaisquer outros casos desta doença nem de quadros

clínicos suspeitos de variante da Doença de Creutzfeldt-Jakob.

Atendendo ao desejo expresso pela família não serão prestadas declarações


Lisboa, 2005-06-09

O Alto-Comissário e Director-Geral da Saúde

Professor Doutor José Pereira Miguel

New vCJD case in Portugal The Portuguese Ministry of Health has announced a second suspected case of vCJD. The report is in Portuguese, titled “Segundo caso provável de variante da Doença de Creutzfeldt-Jacob,” dated February, 2, 2007. Direcção-Geral da Saúde

Comunicado A Direcção-Geral da Saúde recebeu no dia 19 de Fevereiro de 2007 a notificação, com evidência laboratorial, de um segundo caso provável de variante da Doença de Creutzfeldt-Jacob (vDCJ) numa jovem portuguesa residente no Continente. Por imposição ética não são fornecidos pormenores sobre o caso ora notificado. Informa-se, todavia, que não existem riscos para a Saúde Pública, incluindo para os contactos próximos da doente, uma vez que a doença em causa não se transmite de pessoa a pessoa. Lisboa, 20 de Fevereiro de 2007



Em Fevereiro de 2007 foi notificado um caso de possível variante de Creutzfeldt- Jakob numa jovem de 14 anos.

Hoje, dia 12 de Fevereiro de 2009, comunica-se a morte dessa jovem. Durante todo este período a jovem doente foi acompanhada por uma equipa composta por pessoal médico e de enfermagem do Serviço Nacional de Saúde e por técnicos da Segurança Social.

Comunica-se, também, que relativamente a este caso estão a ser observadas todas as normas nacionais e europeias previstas para estas situações.

Este é o segundo óbito registado em Portugal com diagnóstico da variante da doença de Creutzfeldt-Jakob, não havendo outros casos notificados até à presente data.

De forma a proteger a família enlutada, não serão divulgados mais pormenores relativos ao óbito de hoje.

Lisboa, 12 de Fevereiro de 2009 O Director-Geral da Saúde Francisco George

R.I.P. ...TSS

J Neurol Neurosurg Psychiatry 2008;79:180-182 doi:10.1136/jnnp.2007.128389

Short report

Variant Creutzfeldt–Jacob disease: the second case in Portugal and in the same geographical region

Á Machado1, H Soares2, H Antunes2, Z Magalhães3, C Ferreira1, I Baldeiras4, M H Ribeiro4, I Santana5, J Ramalheira6, L Castro7, S Carpenter7 + Author Affiliations

1Neurology Department, Hospital de São Marcos, Braga, Portugal 2Adolescent Unit, Paediatrics Department, Hospital de São Marcos, Braga, Portugal 3Neuroradiology Department, Hospital de São Marcos, Braga, Portugal 4Neurochemistry Laboratory, Hospitais da Universidade de Coimbra, Coimbra, Portugal 5Neurology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal 6Neurophysiology Department, Hospital Geral de Santo António, Porto, Portugal 7Pathology Department, Hospital de São João, Porto, Portugal Dr Álvaro Machado, Serriço de Neurologia, Hospital de Sâo Marcos, Largo Carlos Amarante, Apartado 2242, 4700-Braga, Portngal; Received 26 June 2007 Revised 14 August 2007 Accepted 17 August 2007 Published Online First 31 August 2007


We present the second variant Creutzfeldt–Jacob patient in the same district of northwest Portugal as was previously reported. A 14-year-old previously healthy girl had unexplained pain in the left leg, as well as psychiatric disturbances. This was shortly followed by progressive cognitive impairment, ataxia and generalised choreoatethosis. Neuropsychological assessment revealed severe frontal and medial temporal dysfunction, the posterior cortices being spared. An electroencephalogram was normal. CSF 14.3.3 protein was slightly positive. Magnetic resonance imaging showed the “hockey stick sign” and hyperintensities in the periaquedutal grey matter and in the right parietal cortex, the last with restriction to water molecule movement. SPECT revealed perfusion defects in the left frontotemporal and right parietal regions. PRNP gene sequencing showed no mutations, the patient being homozygous to methionine in codon 129. Five months after onset, immunocytochemical and immunoblotting analysis confirmed deposition of prion protein and a PrP4t electrophoretic pattern. The patient never travelled outside Portugal or received blood transfusions. She had surgical herniorrhaphy in 1998 (when catgut was used) and 2003. This is the second case in Portugal in a 2-year period and 20 km apart from each other, with no known common exposure apart from ingestion of cow meat. We discuss these case peculiarities and underline its epidemiological significance.

Brussels, 16 May 2001

BSE: Scientists publish risk assessments for Costa Rica, Kenya, Slovenia and Romania

The Scientific Steering Committee (SSC) advising the European Commission on BSE related issues has today published its opinion on the Geographical Risk of Bovine Spongiform Encephalopathy (GBR) in Costa Rica, Kenya, Slovenia and Romania. The evaluation of the geographical risk of presence of BSE focuses on the risk for animals to incubate the disease. The Committee concludes that is highly unlikely that cattle infected with the BSE agent are present in domestic herds of Costa Rica (GBR level I). They found that this is unlikely but not excluded in the herds of Kenya and Slovenia (GBR level II) and that it is likely that BSE is present in the cattle herds of Romania (GBR level III) although this is not yet confirmed. Slovenia is the first accession country that is classified as GBR level II. All other accession countries evaluated so far have been classified at level III of Geographical BSE Risk. Similarly, all EU Member States are classified at level III except for Sweden, Finland and Austria (level II) and United Kingdom and Portugal (level IV).

The full text of the opinions is available at:

The numbers of tested and positive cattle in each category in each EU Member State are published and updated regularly. Although the number of cases in the EU was increasing in 2001 and 2002, since 2003 the number of cases in the EU altogether is decreasing (EC, 2003; 2004). A total of over 10 million cattle were tested in the EU in 2004. Of these, 686 cattle were positive. Spain and Portugal were the only countries in the EU 15 Member States with an increase of cases in 2003, and Germany in 2004.

Portugal BSE CASES






* Portugal - Data as of 31 March 2005.


GBR IV: confirmed at a higher level United Kingdom, Portugal

A retrospective study of Creutzfeldt-Jakob disease in North of Portugal 1993-2002: demographic, clinical and neuropathological features

Eurosurveillance, Volume 1, Issue 6, 01 June 1996

Creutzfeldt-Jakob disease: results of an inquiry in the fifteen Member States of the European Union

see Portugal ;



Saturday, December 05, 2009

Molecular Model of Prion Transmission to Humans

Tuesday, August 11, 2009

Characteristics of Established and Proposed Sporadic Creutzfeldt-Jakob Disease Variants

From: TSS () Subject: Sporadic creutzfeldt-jakob disease in two adolescents (see sCJD, the big lie) Date: May 28, 2007 at 7:58 am PST

J Neurol Neurosurg Psychiatry. Published Online First: 23 May 2007. doi:10.1136/jnnp.2006.104570 © 2007 by BMJ Publishing Group Ltd

Original articles

Sporadic creutzfeldt-jakob disease in two adolescents

K Murray 1, D L Ritchie 1, M Bruce 2, C A Young 3, M Doran 3, J W Ironside 4 and R G Will 4* 1 NationalCJD Surveillance Unit, United Kingdom 2 Neuropathogenesis Unit, United Kingdom 3 Walton Centre for Neurology and Neurosurgery, United Kingdom 4 National CJD Surveillance Unit, United Kingdom

* To whom correspondence should be addressed. E-mail:

Accepted 15 April 2007


Background: Sporadic Creutzfeldt-Jakob disease (CJD) is a condition predominantly affecting older age groups, with cases aged less than 45 years rare and an age at onset or death of less than 20 years exceptional.

Methods: Data from the systematic study of sporadic CJD in the UK are available from 1970 onwards. Clinical and pathological data are reviewed in order to identify atypical cases, including those at the extremes of the age range of sporadic CJD. Detailed analysis of atypical cases is undertaken and in selected cases laboratory transmission studies are carried out in order to provide information on the characteristics of the infectious agent.

Results: In the UK two cases of sporadic CJD in adolescents have been identified, dying aged 16 and 20 years. The first case predated the epidemic of bovine spongiform encephalopathy and the characteristics of the second case, including laboratory transmission studies, are consistent with a diagnosis of sporadic rather than variant CJD.

Conclusion: The cases in this report indicate that sporadic CJD can develop at a very young age, that variant CJD is not the only form of CJD occurring in this age group and that neuropathological examination is essential to accurate diagnosis of human prion disease.

Sent: Monday May 28, 2007


Thursday, July 10, 2008

A Novel Human Disease with Abnormal Prion Protein Sensitive to Protease update July 10, 2008

Terry S. Singeltary Sr.

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