A Chinese Creutzfeldt-Jakob Disease Patient with E196K Mutation in PRNP

Overview

Journal Prion

Specialty Biochemistry

Date 2011 May 21

PMID 21597335

Citations 6

Authors

Qi Shi

Cao Chen

Xiao-Nan Song

Chen Gao

Chan Tian

Wei Zhou

Xu-Hua Song

Lai-Shun Yao

Jun Han

Xiao-Ping Dong

Affiliations

Soon will be listed here.

Abstract

Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP) and account for approximately 10-15% of overall human prion diseases worldwide. They are different with disease onset, disease duration, clinical signs and diagnostic findings. Here we reported a 71 year-old female with an E196K mutation in one PRNP allele, while the codon 129 was a methionine homozygous genotype. The patient started with non-specific symptoms, but displayed rapidly progressive disturbances of speech, memory, cognitive and physical movement. No periodic activity was recorded at electroencephalography (EEG) during the entire disease course. Retrospective investigation of her family members did not reveal similar neurological disorders. Total clinical course was about seven months.

Citing Articles

A systemic analysis of Creutzfeldt Jakob disease cases in Asia.

Rasheed U, Khan S, Khalid M, Noor A, Zafar S Prion. 2024; 18(1):11-27.

PMID: 38323574 PMC: 10854368. DOI: 10.1080/19336896.2024.2311950.

Prion Mutations in Republic of Republic of Korea, China, and Japan.

Kim D, Shim K, Bagyinszky E, An S Int J Mol Sci. 2023; 24(1).

PMID: 36614069 PMC: 9820783. DOI: 10.3390/ijms24010625.

Characteristics of Different Types of Prion Diseases - China's Surveillance.

Shi Q, Chen C, Xiao K, Zhou W, Gao C, Gao L China CDC Wkly. 2022; 4(33):723-728.

PMID: 36285115 PMC: 9547742. DOI: 10.46234/ccdcw2022.151.

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in : comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Shi Q, Xiao K, Chen C, Zhou W, Gao L, Wu Y BMJ Open. 2021; 11(11):e054551.

PMID: 34782343 PMC: 8593757. DOI: 10.1136/bmjopen-2021-054551.

Characterization of mutations in (prion) gene and their possible roles in neurodegenerative diseases.

Bagyinszky E, Giau V, Youn Y, An S, Kim S Neuropsychiatr Dis Treat. 2018; 14:2067-2085.

PMID: 30147320 PMC: 6097508. DOI: 10.2147/NDT.S165445.

References

Shi X, Han J, Zhang J, Shi Q, Chen J, Xia S . Clinical, histopathological and genetic studies in a family with fatal familial insomnia. Infect Genet Evol. 2010; 10(2):292-7. DOI: 10.1016/j.meegid.2010.01.007. View

Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F . Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene. J Neurol Sci. 2008; 275(1-2):145-7. DOI: 10.1016/j.jns.2008.06.036. View

Brandel J . Clinical aspects of human spongiform encephalopathies, with the exception of iatrogenic forms. Biomed Pharmacother. 1999; 53(1):14-8. DOI: 10.1016/s0753-3322(99)80055-9. View

Schelzke G, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto A . Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. Neurobiol Aging. 2011; 32(4):756.e1-9. DOI: 10.1016/j.neurobiolaging.2010.11.023. View

Peoch K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D . Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat. 2000; 15(5):482. DOI: 10.1002/(SICI)1098-1004(200005)15:5<482::AID-HUMU16>3.0.CO;2-1. View

Cuadrado-Corrales N, Jimenez-Huete A, Albo C, Hortiguela R, Vega L, Cerrato L . Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD. BMC Neurol. 2006; 6:25. PMC: 1570138. DOI: 10.1186/1471-2377-6-25. View

Shi Q, Gao C, Zhou W, Zhang B, Tian C, Chen J . Human Prion disease with a T188K mutation in Chinese: a case report. Cases J. 2009; 2:7820. PMC: 2740053. DOI: 10.1186/1757-1626-2-7820. View

Shi Q, Gao C, Zhou W, Zhang B, Chen J, Tian C . Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007. BMC Public Health. 2008; 8:360. PMC: 2596798. DOI: 10.1186/1471-2458-8-360. View

Capellari S, Strammiello R, Saverioni D, Kretzschmar H, Parchi P . Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. Acta Neuropathol. 2010; 121(1):21-37. DOI: 10.1007/s00401-010-0760-4. View

10.

Iwasaki Y, Kizawa M, Hori N, Kitamoto T, Sobue G . A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis. Clin Neurol Neurosurg. 2009; 111(7):606-9. DOI: 10.1016/j.clineuro.2009.03.008. View

11.

Hilton D . Pathogenesis and prevalence of variant Creutzfeldt-Jakob disease. J Pathol. 2005; 208(2):134-41. DOI: 10.1002/path.1880. View

12.

Tumani H, Windl O, Kretzschmar H, Ludolph A . [Clinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?]. Dtsch Med Wochenschr. 2002; 127(7):318-20. DOI: 10.1055/s-2002-20148. View

13.

Prusiner S . Prions. Proc Natl Acad Sci U S A. 1998; 95(23):13363-83. PMC: 33918. DOI: 10.1073/pnas.95.23.13363. View

14.

Bejot Y, Osseby G, Caillier M, Moreau T, Laplanche J, Giroud M . Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. Clin Neurol Neurosurg. 2009; 112(3):244-7. DOI: 10.1016/j.clineuro.2009.11.002. View

15.

Guest W, Cashman N, Plotkin S . Electrostatics in the stability and misfolding of the prion protein: salt bridges, self energy, and solvation. Biochem Cell Biol. 2010; 88(2):371-81. DOI: 10.1139/o09-180. View

16.

Ye J, Han J, Shi Q, Zhang B, Wang G, Tian C . Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series. J Med Case Rep. 2008; 2:331. PMC: 2576332. DOI: 10.1186/1752-1947-2-331. View

17.

Gao C, Shi Q, Zhou W, Tian C, Jiang H, Han B . The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. Biomed Environ Sci. 2010; 23(2):158-60. DOI: 10.1016/s0895-3988(10)60046-3. View