A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom

Figures & data

Figure 1. Brain computed tomography image of an 84-year-old woman shows mild cortical atrophy in the hippocampus and the absence of a cerebrovascular lesion.

Figure 2. a. Magnetic resonance imaging (MRI) findings obtained using fluid-attenuated inversion-recovery (FLAIR) (upper) and diffusion-weighted images (DWI) (lower) in an 89-year-old woman. DWI shows cortical hyperintensities in some areas of both hemispheres; the white arrows indicate areas of cortical hyperintensity in the left hemisphere.

Figure 2. b. Magnetic resonance imaging (MRI) findings obtained using fluid-attenuated inversion-recovery (FLAIR) (upper) and diffusion-weighted images (DWI) (lower) in an 89-year-old woman at 4 months after the initial examination. DWI shows the expansion of the cortical hyperintensity areas in both hemispheres, relative to the previous findings.

Figure 3. Clinical course of the present case with V180I CJD. In the present case, person DMS was first observed at the age of 84 years. The cognitive impairment progressed to motivation loss and sensory aphasia at the age of 89 years. The patient died because of aspiration pneumonia at the age of 90 years.

Abbreviations: ADL: activities of daily living, CJD: Creutzfeldt Jakob disease, DMS: delusional misidentification, MMSE: Mini-Mental State Examination, NPI: Neuropsychiatric Inventory, NPS: neuropsychiatric symptoms, PSMS: Physical Self- Maintenance Scale.

Table 1. Initial NPSs in cases with V180I genetic mutation CJD

Author (y)	Onset age (y)	Death age (y)	Sex	HIA in DW-MRI	PSD (EEG)	Family history	NPS as initial symptoms
Suzuki (2008) [9]	80	81	Male	Cerebral cortex and basal ganglia except for right occipital areas	Negative	None	Theft delusion Wandering
Iwasaki (2012) [10]	78	No data	Female	Cerebral cortex and basal ganglia except for medial occipital areas	Negative	None	Pathological laughing and crying
	76	No data	Female	Cerebral cortex and basal ganglia	Negative	None	Abnormal behaviours
	80	82	Male	No data	Negative	None	Pathological laughing and crying
Iwasaki (2019) [11]	87	No data	Female	Right hemisphere	Negative	None	Poor spontaneity
Left parietal and occipital lobes, except in the medial occipital regions

Abbreviation: CJD: Creutzfeldt Jakob disease, DW-MRI: diffusion-weighted magnetic resonance imaging, EEG: electroencephalogram, HIA: hyperintensities, NPS: neuropsychiatric symptom, PSD: periodic sharp discharge

Suzuki K, Matsumura N, Suzuki T, et al. A case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation (in Japanese with English abstract). Nippon Ronen Igaku Zasshi. 2008; 45:107–111.

 PubMedGoogle Scholar

Iwasaki Y. Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying. J Neurol Sci. 2012;319(1–2):47–50.

 PubMed Web of Science ®Google Scholar

Iwasaki Y, Mori K, Ito M, et al. A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry. Prion. 2019;13(1):151–155.

 PubMed Web of Science ®Google Scholar