Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families.
作者信息
Sarapura-Castro Elison, Cosentino Carlos, Landman Jonathan, Landman Avi, Torres Luis, Nuñez Yesenia, Capellari Sabina, Parchi Piero, Cornejo-Olivas Mario
机构信息
Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Northern Pacific Global Health Research Fellows Training Consortium, Seattle, USA; Master's Program in Clinical Epidemiology and Biostatistics, Universidad Científica del Sur, Lima, Peru.
Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; School of Medicine, Universidad Nacional Mayor de San Marcos, Lima, Peru.
出版信息
Clin Neurol Neurosurg. 2021 Mar;202:106490. doi: 10.1016/j.clineuro.2021.106490. Epub 2021 Jan 12.
Abstract
摘要
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Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families.早期感觉障碍和癫痫发作是由E200K PRNP基因突变引起的家族性克雅氏病的常见表现：来自两个秘鲁家庭的病例报告。
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Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease.散发型克雅氏病相关朊病毒周围神经病。
J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):424-427. doi: 10.1136/jnnp-2018-319221. Epub 2018 Oct 24.
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Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.克雅氏病中朊病毒特异性及替代脑脊液生物标志物：与分子亚型相关的诊断准确性以及p- tau和Aβ42水平的神经病理学相关性分析
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Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.遗传性朊病毒病：美国一家快速进展性痴呆中心的经验及文献综述
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Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.E200K型家族性和散发性克雅氏病中的癫痫发作
Acta Neurol Scand. 2015 Mar;131(3):152-7. doi: 10.1111/ane.12304. Epub 2014 Oct 16.
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Clinical aspects of common genetic Creutzfeldt-Jakob disease.常见遗传性克雅氏病的临床特征
Eur J Epidemiol. 2012 Feb;27(2):147-9. doi: 10.1007/s10654-012-9660-3. Epub 2012 Mar 2.
7
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.导致家族性克雅氏病的PRNP 200K突变的祖先起源及全球分布
Am J Hum Genet. 1999 Apr;64(4):1063-70. doi: 10.1086/302340.
8
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews.家族性克雅氏病。利比亚犹太人中的密码子200朊病毒病。
Medicine (Baltimore). 1997 Jul;76(4):227-37. doi: 10.1097/00005792-199707000-00001.
9
Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.患有PRNP密码子200突变的犹太患者中克雅氏病的临床异质性和不寻常表现。
J Neurol Neurosurg Psychiatry. 1993 Oct;56(10):1109-12. doi: 10.1136/jnnp.56.10.1109.
10
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.可传播性家族性克雅氏病中不同突变的表型表达。
Eur J Epidemiol. 1991 Sep;7(5):469-76. doi: 10.1007/BF00143124.
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