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Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of30 Chinese patients
  1. Qi Shi1,2,
  2. Wei Zhou1,2,
  3. Cao Chen1,2,
  4. Kang Xiao1,2,
  5. Yuan Wang1,2,
  6. Chen Gao1,2,
  7. Xiao-Ping Dong1,2
  1. 1 National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China
  2. 2 State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), Beijing, China
  1. Correspondence to Professor Xiao-Ping Dong, Chinese Center for Disease Control and Prevention, National Institute for Viral Disease Control and Prevention, ChangBai Rd 155, Beijing 102206, China; dongxp238{at}

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Genetic human prion diseases include genetic or familial Creutzfeldt-Jakob disease (gCJD or fCJD), fatal familial insomnia (FFI) and Gerstmann-Sträussler-Scheinker syndrome (GSS). T188K gCJD was first described in Germany in 2000.1 The first Chinese patient with T188K gCJD was identified in 2009.2 By March 2016, 30 Chinese cases with T188K gCJD were identified and genetically diagnosed via national CJD surveillance programme. T188K gCJD is now the second-most frequent genetic prion disease among Chinese (next to FFI),3 however, is rarely reported in the other countries besides China.

All cases with 30 T188K gCJD in this report were Han-Chinese without sibship. The gender ratio (male to female) was 1:0.76. The onset ages of the patients varied from 40 to 85 years old, with the median age of 59 years. More patients (13 cases) were in the group of 50–59 years old, followed by those of 60–69 and 70–79 years old.

Clinical features

The interval from onset to reporting to CJD surveillance centre differed from 1 to 9 months (median: 2.5 months). All patients appeared more than one symptom at onset. Progressive dementia was noticed in 2/3 patients (20/30), followed by cerebellum symptoms and walk unstable (12/30), mental (10/30) and extrapyramidal (9/10) symptoms. In the whole clinical courses, progressive dementia was described in 93.3% (28/30) cases. Pyramidal or extrapyramidal dysfunction, myoclonus, visual or cerebellar disturbance and akinetic mutism appeared in 80% (24/30), 60% (18/30), 73.3% (22/30) and 43.3% …

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  • Contributors QS and X-PD wrote the paper, conceived and designed the experiments. WZ and YW collected the samples and done the follow-up. WZ and KX performed the experiments. CG and CC analyzed the data. CC and KX contributed reagents/materials/analysis tools.

  • Funding This work was supported by Chinese National Natural Science Foundation Grants (81630062, 81572048), National Key Research and Development Plan (2016YFC1202700), and SKLID Development Grant (2016SKLID603, 2015SKLID503).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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