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Open Access Highly Accessed Case report

Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

Jing Ye1, Jun Han2, Qi Shi2, Bao-Yun Zhang2, Gui-Rong Wang2, Chan Tian2, Chen Gao2, Jian-Min Chen2, Cun-Jiang Li1, Zheng Liu1, Xian-Zhang Li3, Lai-Zhong Zhang3 and Xiao-Ping Dong2*

Author Affiliations

1 Department of Neurology, Xuan-Wu Hospital, Capital University of Medical Science, Beijing 100053, PR China

2 State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Ying-Xin Rd, Beijing 100052, PR China

3 Affiliated Hospital of Jining Medical College, Shandong 272029, PR China

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Journal of Medical Case Reports 2008, 2:331  doi:10.1186/1752-1947-2-331

Published: 17 October 2008

Abstract

Introduction

Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia.

Case presentation

A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dementia, tiredness, lethargy and mild difficulty in falling asleep. On neurological examination, there was severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia and bilateral Babinski signs. A missense mutation (T to G) was identified at the position of nt 341 in one PRNP allele, leading to a change from glycine (Gly) to valine (Val) at codon 114. PK-resistant PrPSc was detected in brain tissues by Western blotting and immunohistochemical assays. Information on pedigree was collected notably by interviews with family members. A further four suspected patients in five consecutive generations of the family have been identified. One of them was hospitalized for progressive memory impairment at the age of 32. On examination, he had impairment of memory, calculation and comprehension, mild ataxia of the limbs, tremor and a left Babinski sign. He is still alive.

Conclusion

This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide in which this mutation has been identified. Three other suspected cases have been retrospectively identified in this family, and a further case with suggestive clinical manifestations has been shown by gene sequencing to have the causal mutation.