Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report

Figures & data

Figure 1. DNA sequencing of the PRNP gene.

Compared with the standard sequence, the substitution of cytosine with adenine at codon 196 of the PRNP gene results in the substitution of alanine for glutamate (E196A). The PRNP polymorphism of codon 129 was 129M/M homozygous.

Figure 2. Results of DWI scans.

a and b show an increase in signal intensity changes at the surface of the temporal lobe and bilateral basal ganglia regions (especially the caudate nucleus). c and d show ribbon-like signals in the right parietal lobe.

Figure 3. Results of the second EEG.

The second EEG was performed at 2 months after onset of the movement disorder, and a week after the first EEG. The results of the two EEG examinations were similar. a demonstrates abnormal waves in the background. b displays sharp waves, sharp slow waves, and slow waves that are discharged synchronously or asynchronously at the bilateral occipital and frontal region.

Table 1. Clinical characteristics of the four patients with E196A gCJD.

	Case 1	Case 2	Case 3	Case 4
Age at onset	76	55	57	56
Gender	Male	Female	Female	Female
Duration	10	22	NA	NA
Familial history	-	-	-	-
Initial symptoms	Intellectual decline, and intermittent mental and behavioral disorders	Persistent decline in intelligence, giddiness, and unsteady walk	Dysarthria and weakness of the left hand	Numbness and weakness of the left limbs, obvious dizziness, and paroxysmal jitter of the left limb
RPD	+	+	+	+
Myoclonus	+	+	+	+
Visual problem	+	+	+	+
Cerebellar problems	+	+	+	-
Pyramidal symptoms	+	+	+	+
Extrapyramidal symptoms	+	+	+	+
Akinetic mutism	+	+	+	+
Psychiatric symptoms	+	+	+	+
14–3-3 Protein in CSF	+	+	+	+
MRI(DWI) increased signal intensity changes in the caudate or putamen)	-	+	+	+
MRI(DWI) ribbon-like signals)	+	-	+	+
PSWCs in EEG	+	-	-	-
Other EEG features	-	Bilateral diffuse waves, occasionally with periodic sharp waves	Moderate abnormality especially in the right hemisphere	A lot of abnormal waves in the background, including sharp waves, sharp slow waves and slow waves
Codon 129	MM	MM	MM	MM

Abbreviation: NA, not available; RPD, rapidly progressive dementia; CSF, cerebrospinal fluid; MRI, magnetic resonance imaging; DWI, diffusion-weighted imaging; PSWCs, periodic sharp wave complexes MM, methionine-methionine