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Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

Authors :
Alison Green
John Collinge
Tracy Campbell
Ahamad Hassan
Simon Mead
Hans Odd
Lee Darwent
Source :
BMC Neurology, BMC Neurology, Vol 21, Iss 1, Pp 1-3 (2021), Hassan, A, Campbell, T, Darwent, L, Odd, H, Green, A, Collinge, J & Mead, S 2021, ' Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease ', Bmc neurology, vol. 21, no. 1 . https://doi.org/10.1186/s12883-021-02274-w
Publication Year :
2021
Publisher :
Springer Science and Business Media LLC, 2021.

Abstract

Background Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare. Case presentation A Chinese patient presented with a rapidly progressive cognitive and motor disorder in the clinical spectrum of sCJD. Investigations strongly suggested a diagnosis of CJD. He was found to carry a homozygous mutation at PRNP codon 200 (E200D), but there was no known family history of the disorder. The estimated allele frequency of E200D in East Asian populations is incompatible with it being a highly penetrant mutation in the heterozygous state. Conclusion In our view the homozygous PRNP E200D genotype is likely to be causal of CJD in this patient. Homotypic PrP interactions are well known to favour the development of prion disease. The case is compatible with recessively inherited prion disease.

Details

ISSN :
14712377
Volume :
21
Database :
OpenAIRE
Journal :
BMC Neurology
Accession number :
edsair.doi.dedup.....e782e767805c1aa0a66d1e91dac1f63b
Full Text :
https://doi.org/10.1186/s12883-021-02274-w