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Volume 23, Number 9—September 2017


Similarities of Variant Creutzfeldt-Jakob Disease Strain in Mother and Son in Spain to UK Reference Case

Abigail B. DiackComments to Author , Aileen Boyle, Diane Ritchie, Chris Plinston, Dorothy Kisielewski, Jesús de Pedro-Cuesta, Alberto Rábano, Robert G. Will1, and Jean C. Manson1
Author affiliations: The Roslin Institute, Easter Bush, Scotland, UK (A.B. Diack, A. Boyle, C. Plinston, D. Kisielewski, J.C. Manson); University of Edinburgh, Edinburgh, Scotland, UK (D. Ritchie, R.G. Will); Carlos III Institute of Health, Madrid, Spain (J. de Pedro-Cuesta, A. Rábano)

Main Article

Table 1

Demographic and clinical features of 2 case-patients from Spain with variant CJD and reference cases from the United Kingdom*

Characteristic Patient 1 Patient 2 UK cases, n = 150
Patient sex M F
Case-patient age at illness onset, y 41 64 29 (mean)
Case-patient age at death, y 41 64 30 (mean)
Disease duration, mo 9 7 14 (mean)
Early visual symptoms + 6%
Early unsteadiness + 11%
No typical appearance of sporadic CJD on EEG + + 100%
Bilateral symmetric pulvinar high signal on MRI scan of brain Yes Yes 93%
Positive tonsil biopsy result ND ND 19%
History of travel to or residence in United Kingdom No No 100%
Codon 129MM Yes Yes 100%†
Type 2B PrP Yes Yes 100%†

*CJD, Creutzfeldt-Jakob disease; EEG, electroencephalogram; MRI, magnetic resonance imaging; PrP, prion protein; ND, not done; –, negative; +, positive.
†Of those tested.

Main Article

1These senior authors contributed equally to this article.