Case Report of a Family with G114V Prion Disease in China
Author Information
Author(s): Ye Jing, Han Jun, Shi Qi, Zhang Bao-Yun, Wang Gui-Rong, Tian Chan, Gao Chen, Chen Jian-Min, Li Cun-Jiang, Liu Zheng, Li Xian-Zhang, Zhang Lai-Zhong, Dong Xiao-Ping
Primary Institution: Xuan-Wu Hospital, Capital University of Medical Science, Beijing, PR China
Hypothesis
Is there a genetic mutation associated with prion disease in this Chinese family?
Conclusion
This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide with this mutation.
Supporting Evidence
- A missense mutation at codon 114 of the PRNP gene was identified in the proband.
- Four suspected cases of familial Creutzfeldt-Jakob disease were identified in five generations of the family.
- The proband presented with clinical features similar to sporadic CJD, including dementia and myoclonus.
Takeaway
A family in China has a rare genetic mutation that causes a brain disease, and they have had several members affected by it over generations.
Methodology
Clinical examination, genetic sequencing, and epidemiological interviews were conducted to identify affected family members and analyze the mutation.
Limitations
The study is limited by the retrospective nature of the family history and the small number of affected individuals.
Participant Demographics
The study involved a Han-Chinese family with multiple generations affected by prion disease.
Digital Object Identifier (DOI)
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