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

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

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 extrem...

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Bibliographic Details
Main Authors: Ahamad Hassan, Tracy Campbell, Lee Darwent, Hans Odd, Alison Green, John Collinge, Simon Mead
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Neurology
Subjects:
CJD
Prion
PRNP
Inherited prion disease
Recessive
E200D
Online Access:https://doi.org/10.1186/s12883-021-02274-w

Internet

https://doi.org/10.1186/s12883-021-02274-w

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