Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases

Figures & data

Figure 1. The MRI axial DWI sequence shows signal hyperintensity involving the right frontal, the left frontal and parietal cortical areas (known as cortical ribbon sign); insular cortex (especially on the left) and left corpus striatum are also involved. Areas of interest are highlighted by arrows.

Table 1. Clinical features of CJD patients carrying the PRNP V301I variant (nr = not reported)

Publication	Peoc’h 2000 [3]	Jeong 2010 [4]	Shi 2013 [5]	Komatsu 2014 [7]	Cistaro 2017 [8]	Kovacs 2017 [9]	Kovacs 2017 [9]	Kovacs 2017 [9]	Tang 2018 [6]	Present case
V301I genotype	Val/Ile	Val/Ile	Val/Ile	Ile/Ile	Val/Ile	Val/Ile	Val/Ile	Val/Ile	Val/Ile	Val/Ile
M129V genotype	Met/Met	Met/Val	Met/Met	Met/Met	nr	Met/Met	Met/Met	Met/Met	Met/Met	Met/Met
Sex	M	F	M	F	F	M	F	M	F	M
Family history	negative	nr	negative	negative	negative	nr	nr	nr	nr	negative
Age at diagnosis	69	66	80	73	48	76	71	69	61	64
Duration of disease	35 days	2 months	2 months	24 months	nr	7 months	7 months	2 months	7 months	6 weeks
Cognitive symptoms	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes
Behavioural symptoms	yes	yes	no	no	nr	nr	nr	nr	yes	yes
Psychotic symptoms	yes	no	no	no	nr	yes	yes	no	no	yes
Ataxia	yes	yes	yes	no	yes	yes	no	yes	nr	yes
Tremor	yes	yes	yes	no	nr	yes	yes	yes	nr	yes
Rigidity	no	yes	yes	no	nr	yes	yes	yes	nr	yes
Brain MRI	nr	typical	typical	typical	typical	nr	typical	nr	typical	typical
EEG	typical	nr	typical	typical	typical	typical	typical	typical	moderate abnormality (not specified)	typical
CSF	nr	nr	14.3.3	14.3.3 and tau	tau	14.3.3	14.3.3	14.3.3	negative	14.3.3 and tau
Pathology	nr	typical	nr	typical	nr	prominent astrocytic tau pathology	prominent astrocytic tau pathology	prominent astrocytic tau pathology	nr	typical

Peoc’h K, Manivet P, Beaudry P, et al. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat. 2000;15(5):482.

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Jeong BH, Jeon YC, Lee YJ, et al. Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment. Neuropathol Appl Neurobiol. 2010;36(6):558–563.

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Shi Q, Chen C, Wang XJ, et al. Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. Prion. 2013;7(3):259–262.

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Komatsu J, Sakai K, Hamaguchi T, et al. Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene. Prion. 2014;8(5):336–338.

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Cistaro A, Cassalia L, Ferrara C, et al. Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene. J Neurol. 2017 Jan;264(1):170–173.

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Kovacs GG, Rahimi J, Ströbel T, et al. Tau pathology in Creutzfeldt-Jakob disease revisited. Brain Pathol. 2017 May;27(3):332–344.

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Tang C, Gao C. Report and literature review on two cases with different kinds of Creutzfeldt-Jakob disease. Exp Ther Med. 2018 Jan;15(1):854–858.

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