The first sporadic creutzfeldt–jakob disease case with a rare molecular subtype vv1 and 1-octapeptide repeat deletion in prnp
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The first sporadic creutzfeldt–jakob disease case with a rare molecular subtype vv1 and 1-octapeptide repeat deletion in prnp. / Areškevičiūtė, Aušrinė; Lund, Eva Løbner; Capellari, Sabina; Parchi, Piero; Pinkowsky, Christian Tersbøl.
I: Viruses, Bind 13, Nr. 10, 2061, 10.2021.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - The first sporadic creutzfeldt–jakob disease case with a rare molecular subtype vv1 and 1-octapeptide repeat deletion in prnp
AU - Areškevičiūtė, Aušrinė
AU - Lund, Eva Løbner
AU - Capellari, Sabina
AU - Parchi, Piero
AU - Pinkowsky, Christian Tersbøl
N1 - Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021/10
Y1 - 2021/10
N2 - 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.
AB - 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.
KW - 1-OPRD
KW - 58-year-old female patient
KW - Creutzfeldt–Jakob disease
KW - Deletion polymorphism
KW - Prion protein gene
KW - Prions
KW - Sporadic prion disease
KW - VV1
U2 - 10.3390/v13102061
DO - 10.3390/v13102061
M3 - Journal article
C2 - 34696491
AN - SCOPUS:85117353616
VL - 13
JO - Viruses
JF - Viruses
SN - 1999-4915
IS - 10
M1 - 2061
ER -
ID: 288185635