A Creutzfeldt–Jakob disease patient with V180I mutation survived for 16.5 years after diagnosis

2022 ◽  
Author(s):  
Nayoung Ryoo ◽  
SangHak Yi ◽  
Seong Soo A. An ◽  
Young Ho Park ◽  
SangYun Kim
Keyword(s):  
Disease Patient ◽  
Jakob Disease

scholarly journals Serial magnetic resonance images of a Creutzfeldt-Jakob disease patient with V180I mutation obtained over 10 years

2013 ◽  
Vol 53 (3) ◽  
pp. 235-238 ◽  
Author(s):  
Hiroshi Shimizu ◽  
Yusei Shiga ◽  
Arifumi Matsumoto ◽  
Kinya Hisanaga
Keyword(s):  
Magnetic Resonance ◽  
Disease Patient ◽  
Magnetic Resonance Images ◽  
Jakob Disease

scholarly journals THK5351 and flortaucipir PET with pathological correlation in a Creutzfeldt-Jakob disease patient: a case report

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Hee Jin Kim ◽  
Hanna Cho ◽  
Seongbeom Park ◽  
Hyemin Jang ◽  
Young Hoon Ryu ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Patient ◽  
Pathological Correlation ◽  
Jakob Disease

Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation

Neurology ◽  
1992 ◽  
Vol 42 (6) ◽  
pp. 1249-1249 ◽  
Author(s):  
J. Chapman ◽  
P. Brown ◽  
J. M. Rabey ◽  
L. G. Goldfarb ◽  
R. Inzelberg ◽  
...  
Keyword(s):  
Disease Patient ◽  
Spongiform Encephalopathy ◽  
Jakob Disease ◽  
Prnp Codon

Valine homozygous 129 PrP genotype in a French growth-hormone-related Creutzfeldt-Jakob disease patient

Neurology ◽  
1993 ◽  
Vol 43 (2) ◽  
pp. 447-447 ◽  
Author(s):  
P. Labauge ◽  
M. Pages ◽  
J.-M. Blard ◽  
J. Chatelain ◽  
J.-L. Laplanche
Keyword(s):  
Growth Hormone ◽  
Disease Patient ◽  
Jakob Disease

scholarly journals The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation inPRNP

Prion ◽  
2011 ◽  
Vol 5 (3) ◽  
pp. 232-234 ◽  
Author(s):  
Cao Chen ◽  
Qi Shi ◽  
Chan Tian ◽  
Qing Li ◽  
Wei Zhou ◽  
...  
Keyword(s):  
Disease Patient ◽  
Chinese Case ◽  
Jakob Disease

scholarly journals The First Sporadic Creutzfeldt–Jakob Disease Case with a Rare Molecular Subtype VV1 and 1-Octapeptide Repeat Deletion in PRNP

Viruses ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2061
Author(s):  
Aušrinė Areškevičiūtė ◽  
Eva Løbner Lund ◽  
Sabina Capellari ◽  
Piero Parchi ◽  
Christian Tersbøl Pinkowsky
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Molecular Subtype ◽  
Disease Onset ◽  
Disease Patient ◽  
Brain Biopsy ◽  
Prion Protein Gene ◽  
Disease Case ◽  
Diagnostic Difficulties ◽  
Jakob Disease

In the present manuscript, we report the clinical presentation and challenging diagnostic work-up of a sporadic Creutzfeldt–Jakob disease patient with confirmed VV1 subtype and heterozygous 1-octapeptide repeat deletion in the prion protein gene. The described patient was a 58-year-old woman. Interestingly, most of the reported patients with the VV1 subtype to date are men with an average age of 44 years at disease onset. The patient was observed clinically from symptoms onset until her death 22 months later. This report describes the patient’s insidious clinical evolution and the paraclinical examinations and pathology reports gathered at different time points of disease progression. Unfortunately, the absence of typical clinical and paraclinical features of classic sporadic Creutzfeldt–Jakob disease made the brain biopsy surgery necessary. This case report illustrates the diagnostic difficulties posed by the phenotypic heterogeneity of sporadic Creutzfeldt–Jakob disease and urges clinicians to consider this diagnosis even in patients who do not fulfil the typical clinical disease criteria. Furthermore, it highlights the need for real-time quaking-induced conversion method adaptation for detection of rare sporadic Creutzfeldt–Jakob disease subtypes with certain prion protein gene variants.

scholarly journals A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP

Prion ◽  
2011 ◽  
Vol 5 (2) ◽  
pp. 117-120 ◽  
Author(s):  
Qi Shi ◽  
Cao Chen ◽  
Xiao-Nan Song ◽  
Chen Gao ◽  
Chan Tian ◽  
...  
Keyword(s):  
Disease Patient ◽  
Jakob Disease

scholarly journals Accumulation of Astrocytic Aquaporin 4 and Aquaporin 1 in Prion Protein Plaques

2020 ◽  
Vol 79 (4) ◽  
pp. 419-429
Author(s):  
Shoko Sadashima ◽  
Hiroyuki Honda ◽  
Satoshi O Suzuki ◽  
Masahiro Shijo ◽  
Shinichi Aishima ◽  
...  
Keyword(s):  
Prion Protein ◽  
Neurological Diseases ◽  
Prion Diseases ◽  
Senile Plaques ◽  
Water Channel ◽  
Disease Patient ◽  
Protective Role ◽  
Plaque Type ◽  
Jakob Disease

Abstract Gerstmann-Sträussler-Scheinker (GSS) disease with P102L mutation and familial Creutzfeldt-Jakob disease (CJD) with V180I mutation are 2 major hereditary prion diseases in Japan. GSS and some familial CJD [V180I] exhibit characteristic prion protein (PrP) plaques. Overexpression of the astrocytic water channel proteins aquaporin (AQP) 1 and AQP4 was recently reported in sporadic CJD. To clarify the pathological characteristics of AQP1 and AQP4 in prion disease patient brains with plaque-type deposition, we investigated 5 patients with GSS, 2 patients with CJD [V180I], and 2 age-matched control cases without neurological diseases using immunohistochemistry and double immunofluorescence methods. We demonstrated that there is the intense expression of AQP1 and AQP4 around prion plaques, especially in distal astrocytic processes deep inside these plaques. Similar results have been reported in the senile plaques and ghost tangles of Alzheimer disease brains and a protective role of AQP4 in which AQP4 is redistributed toward the plaques and works as a barrier against the deleterious effects of these plaques has been suggested. Our results, which show a similar clustering of AQPs around PrP plaques, therefore support the possibility that AQPs also have a protective role in plaque formation in prion diseases.

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