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Clinical features of familial Creutzfeldt-Jakob disease and the E200K mutation in Spain

R.Y. Morgado-Linares, J.L. Ruiz-Peña, M.D. Páramo, M. Díaz-Delgado, G. Izquierdo [REV NEUROL 2007;44:150-153] PMID: 17285519 DOI: https://doi.org/10.33588/rn.4403.2006281

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Volumen 44 | Number 03 | Nº of views of the article 9.215 | Nº of PDF downloads 753 | Article publication date 01/02/2007

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ABSTRACT

INTRODUCTION Creutzfeldt-Jakob disease (CJD) is an infrequent pathology affecting the central nervous system (about 1/1 000 000) that has a subacute progression and, for the time being, a fatal prognosis. The familial forms account for between 5-10% of cases and one of the most frequent is that produced by the E200K mutation of prion protein gene (PRNP), which has not been reported in Spanish families although Spain is considered to be part of the expansion circuit of the mutation. CASE REPORTS. We report on a Spanish family with three cases of CJD. The disease affected three females (our patient and two paternal aunts), who started with dementia, myoclonias, gait disorders and cortical blindness at the ages of 61, 53 and 55 years. Progress in all three cases was torpid and the symptoms advanced in a short time. Results of the complementary tests that were carried out were normal, except for the electroencephalogram, which was compatible with CJD in all three cases, and the imaging tests, which revealed cortical-subcortical atrophy. A confirmatory diagnosis was reached from a biopsy, the clinical picture and the family history in the cases of the paternal aunts and from a genetic study of our patient, which confirmed the E200K mutation.

CONCLUSIONS This family confirms the presence of familial forms of CJD in Spain, more specifically the E200K mutation, and highlights the role of Spain in the possible transmission of this mutation. KeywordsFamilial Creutzfeldt-Jakob disease Spain Subacute spongiform encephalopathy

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Nota Clínica

Clinical features of familial Creutzfeldt-Jakob disease and the E200K mutation in Spain