Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Prion
; 16(1): 19-22, 2022 12.
Article
em En
| MEDLINE
| ID: mdl-35167423
ABSTRACT
Creutzfeldt-Jakob disease (CJD) is usually sporadic, but 10-15% of cases are caused by autosomal-dominant pathogenic variants in the prion protein gene (PRNP). A few PRNP variants show low penetrance. We report the case of a 64-year-old man, admitted to the ward with acute onset of aphasia; death occurred 6 weeks later. Brain MRI, EEG pattern and brain pathology were consistent with CJD diagnosis. Genetic analysis revealed a heterozygous V203I variant. We summarized the key clinical findings in patients carrying the V203I variant who were described to date. We also discuss the hypothesis as to whether V203I is a risk factor for CJD rather than a Mendelian disease-associated variant, as well as the possible implications of such hypothesis in the clinical scenario.
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Base de dados:
MEDLINE
Assunto principal:
Príons
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Síndrome de Creutzfeldt-Jakob
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Acidente Vascular Cerebral
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article