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Prion Volume 16, 2022 - Issue 1
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Case Report

Creutzfeldt–Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature

Yuheng Shana Medical School of Chinese PLA, Beijing, P.R. China;b Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China;c Department of Neurology, Characteristic Medical Centre of People’s Armed Police Force, Tianjin, P.R. ChinaView further author information
,
Jiatang Zhangb Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-9714-0944View further author information
ORCID Icon,
Yuying Cena Medical School of Chinese PLA, Beijing, P.R. China;b Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaView further author information
,
Xiaojiao Xua Medical School of Chinese PLA, Beijing, P.R. China;b Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaView further author information
,
Ruishu Tana Medical School of Chinese PLA, Beijing, P.R. China;b Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaView further author information
,
Jiahua Zhaoa Medical School of Chinese PLA, Beijing, P.R. China;b Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaView further author information
&
Shengyuan Yub Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. ChinaView further author information
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Pages 14-18 | Received 27 Nov 2021, Accepted 14 Jan 2022, Published online: 07 Feb 2022

References

  • Iwasaki Y. Creutzfeldt-Jakob disease. Neuropathology. 2017;37:174–188.
  • Chen C, Dong XP. Epidemiological characteristics of human prion diseases. Infect Dis Poverty. 2016;5:47.
  • Kim MO, Cali I, Oehler A, et al. Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases. Acta Neuropathol Commun. 2013;1:80.
  • Shi Q, Zhou W, Chen C, et al. The features of genetic prion diseases based on Chinese surveillance program. PLoS One. 2015;10:e0139552.
  • Shi Q, Zhou W, Chen C, et al. Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. J Neurol Neurosurg Psychiatry. 2017;88:889–890.
  • Komatsu J, Sakai K, Hamaguchi T, et al. Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene. Prion. 2014;8:336–338.
  • Nitsan Z, Cohen OS, Chapman J, et al. Familial Creutzfeldt-Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course. J Neurol. 2020;267:2455–2458.
  • Hassan A, Campbell T, Darwent L, et al. Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease. BMC Neurol. 2021;21:248.
  • Kawaguchi A, Miyatake K, Yutani C, et al. Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia. Am Heart J. 1999;137:410–418.
  • Lerer I, Merims D, Abeliovich D, et al. Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Human Genet. 1996;4:3–7.
  • Sato K, Kashihara K, Okada S, et al. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology. 1995;45:1934–1936.
  • Ximelis T, Marin-Moreno A, Espinosa JC, et al. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. Alzheimer’s Res Ther. 2021;13:176.
  • Boesenberg C, Schulz-Schaeffer WJ, Meer B, et al. Clinical course in young patients with sporadic Creutzfeldt-Jakob disease. Ann Neurol. 2005;58:533–543.

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