Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease

Figures & data

FIGURE 1. Western blot analysis of protein 14-3-3 in CSF samples. Positive Ctrl: 10% goat brain homogenate. Negative Ctrl: a human CSF sample previously confirmed to be 14-3-3 negative. Case sample: the CSF samples of the E196A gCJD cases. M: commercially supplied prestained protein molecular markers whose relative molecular weights are showed on the left.

FIGURE 2. Graphic presentation of the sequencing analysis of PRNP. DNA sequence from the 3 patients at codon 196 shows a E to A heterozygous transition at codon 196 in one PRNP allele, leading to and exchange from Glu (E) to Ala (A). The right graph shows a control of DNA sequence of a person containing Glu/Glu homozygote at codon 196 in PRNP alleles.

TABLE 1. Characteristics of 3 Chinese patients with E196A gCJD.

			Major CJD-associated symptoms and signs							EEG		MRI
	Initial symptoms	Age at onset (year), gender	Rapidly progressive dementia	Visual cerebellar problems	Myoclonus	pyramidal or extrapyramidal features	akinetic mutism	Family association	CSF 14-3-3	PSWCs	others	High signals in caudate/putamen	DWI ribbon-like signals	Codon 129	Clinical course (month)
Case 1^9	76, male	intermittent confusion and dystropy	+	+	+	+	+	−	+	+	−	−	+	MM	10
Case 2	55 female	swirl, walking unstable, intelligence decline	+	+	+	+	−	−	+	−	bilateral diffuse waves, occasionally with periodic sharp waves	+	−	MM	22
Case 3	57 female	speak thickly and left hand weakness	+	+	+	+	+	−	+	−	moderate abnormality especially at right hemisphere	+	+	MM	Still alive 9 months after onset

Zhang H, Wang M, Wu L, Zhang H, Jin T, Wu J, Sun L. Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease. J Clin Neurosci 2014; 21:175-8; PMID:23787189; http://dx.doi.org/10.1016/j.jocn.2013.03.016

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