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Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease
Background: The Heidenhain variant of Creutzfeldt–Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our unders...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10223322/ https://www.ncbi.nlm.nih.gov/pubmed/37243178 http://dx.doi.org/10.3390/v15051092 |
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author | Kong, Yu Chen, Zhongyun Zhang, Jing Wang, Xue Wu, Liyong |
author_facet | Kong, Yu Chen, Zhongyun Zhang, Jing Wang, Xue Wu, Liyong |
author_sort | Kong, Yu |
collection | PubMed |
description | Background: The Heidenhain variant of Creutzfeldt–Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our understanding of this rare subtype. Method: HvCJD patients admitted to the Xuanwu Hospital from February 2012 to September 2022 were identified, and published reports on genetic HvCJD cases were also reviewed. The clinical and genetic features of HvCJD were summarized, and the clinical features between genetic and sporadic HvCJD were compared. Results: A total of 18 (7.9%) HvCJD patients were identified from 229 CJD cases. Blurred vision was the most common visual disturbance at the disease’s onset, and the median duration of isolated visual symptoms was 30.0 (14.8–40.0) days. DWI hyperintensities could appear in the early stage, which might help with early diagnosis. Combined with previous studies, nine genetic HvCJD cases were identified. The most common mutation was V210I (4/9), and all patients (9/9) had methionine homozygosity (MM) at codon 129. Only 25% of cases had a family history of the disease. Compared to sporadic HvCJD, genetic HvCJD cases were more likely to present with non-blurred vision visual symptoms at onset and develop cortical blindness during the progression of the disease. Conclusions: HvCJD not only could be sporadic, but also, it could be caused by different PRNP mutations. Sporadic HvCJD was more likely to present with blurred vision visual symptoms at onset, and genetic HvCJD was more likely to develop cortical blindness with the disease’s progression. |
format | Online Article Text |
id | pubmed-10223322 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-102233222023-05-28 Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease Kong, Yu Chen, Zhongyun Zhang, Jing Wang, Xue Wu, Liyong Viruses Article Background: The Heidenhain variant of Creutzfeldt–Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our understanding of this rare subtype. Method: HvCJD patients admitted to the Xuanwu Hospital from February 2012 to September 2022 were identified, and published reports on genetic HvCJD cases were also reviewed. The clinical and genetic features of HvCJD were summarized, and the clinical features between genetic and sporadic HvCJD were compared. Results: A total of 18 (7.9%) HvCJD patients were identified from 229 CJD cases. Blurred vision was the most common visual disturbance at the disease’s onset, and the median duration of isolated visual symptoms was 30.0 (14.8–40.0) days. DWI hyperintensities could appear in the early stage, which might help with early diagnosis. Combined with previous studies, nine genetic HvCJD cases were identified. The most common mutation was V210I (4/9), and all patients (9/9) had methionine homozygosity (MM) at codon 129. Only 25% of cases had a family history of the disease. Compared to sporadic HvCJD, genetic HvCJD cases were more likely to present with non-blurred vision visual symptoms at onset and develop cortical blindness during the progression of the disease. Conclusions: HvCJD not only could be sporadic, but also, it could be caused by different PRNP mutations. Sporadic HvCJD was more likely to present with blurred vision visual symptoms at onset, and genetic HvCJD was more likely to develop cortical blindness with the disease’s progression. MDPI 2023-04-29 /pmc/articles/PMC10223322/ /pubmed/37243178 http://dx.doi.org/10.3390/v15051092 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Kong, Yu Chen, Zhongyun Zhang, Jing Wang, Xue Wu, Liyong Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title | Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title_full | Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title_fullStr | Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title_full_unstemmed | Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title_short | Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease |
title_sort | clinical and genetic characteristics of the heidenhain variant of creutzfeldt–jakob disease |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10223322/ https://www.ncbi.nlm.nih.gov/pubmed/37243178 http://dx.doi.org/10.3390/v15051092 |
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