Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kong, Yu, Chen, Zhongyun, Zhang, Jing, Wang, Xue, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1785049913885720576
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
work_keys_str_mv AT kongyu clinicalandgeneticcharacteristicsoftheheidenhainvariantofcreutzfeldtjakobdisease
AT chenzhongyun clinicalandgeneticcharacteristicsoftheheidenhainvariantofcreutzfeldtjakobdisease
AT zhangjing clinicalandgeneticcharacteristicsoftheheidenhainvariantofcreutzfeldtjakobdisease
AT wangxue clinicalandgeneticcharacteristicsoftheheidenhainvariantofcreutzfeldtjakobdisease
AT wuliyong clinicalandgeneticcharacteristicsoftheheidenhainvariantofcreutzfeldtjakobdisease