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
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 oc...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2022-12-01
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| Series: | Prion |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/19336896.2022.2035479 |
| _version_ | 1819279006959140864 |
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| author | Ilaria Gandoglia Laura Strada Anna Poleggi Antonio Castaldi Massimo Del Sette Emilio Di Maria |
| author_facet | Ilaria Gandoglia Laura Strada Anna Poleggi Antonio Castaldi Massimo Del Sette Emilio Di Maria |
| author_sort | Ilaria Gandoglia |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-24T00:21:03Z |
| format | Article |
| id | doaj.art-78fa0c9a0a31462fb823358eea4e62fd |
| institution | Directory Open Access Journal |
| issn | 1933-6896 1933-690X |
| language | English |
| last_indexed | 2024-12-24T00:21:03Z |
| publishDate | 2022-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Prion |
| spelling | doaj.art-78fa0c9a0a31462fb823358eea4e62fd2022-12-21T17:24:35ZengTaylor & Francis GroupPrion1933-68961933-690X2022-12-01161192210.1080/19336896.2022.20354792035479Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published casesIlaria Gandoglia0Laura Strada1Anna Poleggi2Antonio Castaldi3Massimo Del Sette4Emilio Di Maria5Galliera HospitalGalliera HospitalIstituto Superiore di SanitàGalliera HospitalIRCCS Policlinico San MartinoUniversity of GenovaCreutzfeldt-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.http://dx.doi.org/10.1080/19336896.2022.2035479prnpprion diseasestroke-like onsetgenotypepenetrancerisk factorreview |
| spellingShingle | Ilaria Gandoglia Laura Strada Anna Poleggi Antonio Castaldi Massimo Del Sette Emilio Di Maria 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 prnp prion disease stroke-like onset genotype penetrance risk factor review |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | prnp prion disease stroke-like onset genotype penetrance risk factor review |
| url | http://dx.doi.org/10.1080/19336896.2022.2035479 |
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