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

Title
Variant Creutzfeldt-Jacob disease: the second case in Portugal and in the same geographical region
Type
Article in International Scientific Journal
Year
2008
Authors
Machado, A
(Author)
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Antunes, H
(Author)
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Magalhaes, Z
(Author)
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Ferreira, C
(Author)
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Baldeiras, I
(Author)
Other
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Ribeiro, MH
(Author)
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Santana, I
(Author)
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Ramalheira, J
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Castro, L
(Author)
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Carpenter, S
(Author)
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Journal
Vol. 79
Pages: 180-182
ISSN: 0022-3050
Other information
Authenticus ID: P-004-1VC
Abstract (EN): 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.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 3
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