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A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt‐Jakob Disease: Experience and Insights From Israel.

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Title: A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt‐Jakob Disease: Experience and Insights From Israel.
Authors: Shir, Dror (AUTHOR), Bregman, Noa (AUTHOR), David, Aya Bar (AUTHOR), Nathan, Talya (AUTHOR), Goldstein, Orly (AUTHOR), Gurevich, Tanya (AUTHOR), Thaler, Avner (AUTHOR), Mirelman, Anat (AUTHOR), Shiner, Tamara (AUTHOR), Weisz, Mali Gana (AUTHOR), Shkedi‐Rafid, Shiri (AUTHOR), Ganz, Gael (AUTHOR), Shani, Hagit (AUTHOR), Pras, Elon (AUTHOR), Chorin, Odelia (AUTHOR), Sorkin, Gia (AUTHOR), Markus‐Bustani, Keren (AUTHOR), Merhavi, Shlomzion Kahana (AUTHOR), Shechory‐Stahl, Mor (AUTHOR), Sharav, Miri Yanoov (AUTHOR)
Source: European Journal of Neurology. Jun2026, Vol. 33 Issue 6, p1-9. 9p.
Subjects: Genetic testing, Creutzfeldt-Jakob disease, Genetic counseling, Prion diseases, Neurodegeneration, Genetic disorder diagnosis
Geographic Terms: Israel
Abstract: Background: Genetic Creutzfeldt‐Jakob Disease (gCJD) is an autosomal dominant prion disease caused by heterozygous pathogenic variants in the PRNP gene. It is relatively prevalent in Israel due to a large cluster of individuals from Libyan Jewish origin harboring the p.Glu200Lys variant. In our experience, increasing awareness, expanded reproductive options, and the emergence of research initiatives have led more asymptomatic relatives to seek presymptomatic testing. Since gCJD is a highly penetrant and fatal condition, the decision to pursue testing involves complex medical, psychological, ethical, and familial considerations. Methods: An Israeli multidisciplinary expert panel, familiar with gCJD, collaborated to formulate a structured approach to the genetic testing process of at‐risk individuals. Results: We describe the core components of the recommended presymptomatic testing process, in a real‐world setting. We focus on referral considerations, eligibility and timing of testing, psychological assessment, a stepwise approach for the testing process, results disclosure, post‐result support, and implications for family planning. Conclusions: Based on the valuable experience of professionals who address these issues in clinical practice, the proposed framework aims to provide a comprehensive structured methodology for clinicians and care teams supporting individuals at risk for gCJD. It may serve as a model for the testing process of other late‐onset monogenic neurodegenerative diseases, in Israel and worldwide. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt‐Jakob Disease: Experience and Insights From Israel.
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  Data: <searchLink fieldCode="AR" term="%22Shir%2C+Dror%22">Shir, Dror</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bregman%2C+Noa%22">Bregman, Noa</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22David%2C+Aya+Bar%22">David, Aya Bar</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nathan%2C+Talya%22">Nathan, Talya</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Goldstein%2C+Orly%22">Goldstein, Orly</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gurevich%2C+Tanya%22">Gurevich, Tanya</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Thaler%2C+Avner%22">Thaler, Avner</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mirelman%2C+Anat%22">Mirelman, Anat</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shiner%2C+Tamara%22">Shiner, Tamara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Weisz%2C+Mali+Gana%22">Weisz, Mali Gana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shkedi‐Rafid%2C+Shiri%22">Shkedi‐Rafid, Shiri</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ganz%2C+Gael%22">Ganz, Gael</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shani%2C+Hagit%22">Shani, Hagit</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pras%2C+Elon%22">Pras, Elon</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chorin%2C+Odelia%22">Chorin, Odelia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sorkin%2C+Gia%22">Sorkin, Gia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Markus‐Bustani%2C+Keren%22">Markus‐Bustani, Keren</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Merhavi%2C+Shlomzion+Kahana%22">Merhavi, Shlomzion Kahana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shechory‐Stahl%2C+Mor%22">Shechory‐Stahl, Mor</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sharav%2C+Miri+Yanoov%22">Sharav, Miri Yanoov</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Jun2026, Vol. 33 Issue 6, p1-9. 9p.
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  Data: <searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Creutzfeldt-Jakob+disease%22">Creutzfeldt-Jakob disease</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+counseling%22">Genetic counseling</searchLink><br /><searchLink fieldCode="DE" term="%22Prion+diseases%22">Prion diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorder+diagnosis%22">Genetic disorder diagnosis</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22Israel%22">Israel</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Background: Genetic Creutzfeldt‐Jakob Disease (gCJD) is an autosomal dominant prion disease caused by heterozygous pathogenic variants in the PRNP gene. It is relatively prevalent in Israel due to a large cluster of individuals from Libyan Jewish origin harboring the p.Glu200Lys variant. In our experience, increasing awareness, expanded reproductive options, and the emergence of research initiatives have led more asymptomatic relatives to seek presymptomatic testing. Since gCJD is a highly penetrant and fatal condition, the decision to pursue testing involves complex medical, psychological, ethical, and familial considerations. Methods: An Israeli multidisciplinary expert panel, familiar with gCJD, collaborated to formulate a structured approach to the genetic testing process of at‐risk individuals. Results: We describe the core components of the recommended presymptomatic testing process, in a real‐world setting. We focus on referral considerations, eligibility and timing of testing, psychological assessment, a stepwise approach for the testing process, results disclosure, post‐result support, and implications for family planning. Conclusions: Based on the valuable experience of professionals who address these issues in clinical practice, the proposed framework aims to provide a comprehensive structured methodology for clinicians and care teams supporting individuals at risk for gCJD. It may serve as a model for the testing process of other late‐onset monogenic neurodegenerative diseases, in Israel and worldwide. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=194946675
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        Value: 10.1111/ene.70649
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