Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt–Jakob disease

Figures & data

Figure 1. Western blot analysis for protein 14-3-3 in the patient’s CSF is shown in Lane 1. Lane 2 is the positive control.

Figure 2. Graphical representation of the PRNP sequence analysis showing a G to A heterozygous transition at codon 203 in one PRNP allele, leading to substitution of valine (V) by isoleucine (I). The arrow above the curve indicates the position where both V and I are present.

Figure 3. Graphical representation of the Met/Met homozygous polymorphism at codon 129 (A) and Glu/Glu homozygosity at codon 219 (B) of PRNP in this patient.

Table 1. Clinical, electroencephalographic, CSF protein 14-3-3 and genetic features of three patients with the PRNP V203I mutation

Author, year, country	Age at onset (years), gender	Initial clinical manifestation	Clinical symptoms	PSWCs in EEG	14-3-3 in CSF		MRI data	PrPSc in brain		Codon 129	Genealogical information	Clinical course (months)
Peoc'h et al. 2000, Italy	69, Male	Monocular diplopia, dizziness	Hallucination, tremor, cerebellar gait, coordination deficit, multidirectional nystagmus, myoclonus	+		+	Ø	+	M/M		Father died at age 60 from cardiac failure; mother died at age 62 from traffic accident	1
Jeong et al. 2010, Korea	66, Female	Gait disturbance, progressive cognitive dysfunction	Tremor, mild dysphonation, cogwheel rigidity, myoclonus, dysphonation, dysphagia, quadriparesis, dyspnoea, stuporous state	Ø		+	Gyriform hyperintensity in the cerebral cortex on diffusion-weighted images and T2-weighted images	+	M/V		No information available for her parents	2
Shi et al. this report, China	80, Male	Memory loss, inattention, slow responses	Dizziness, blurred vision, ataxia, tremor, myoclonus, bilateral Babinski signs, akinetic mutism	+		+	Increased signal intensity in bilateral frontal and parietal lobes	Ø	M/M		Father died from cardiac failure, mother died from stroke; ages at death not known	2

Key: CSF, cerebrospinal fluid; PSWC, periodic sharp wave complex; MRI, magnetic resonance image; +, positive; -, negative; Ø, not available.