Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129
N Engl J Med
.
2017 Jan 19;376(3):292-294.
doi: 10.1056/NEJMc1610003.
Authors
Tzehow Mok
1
,
Zane Jaunmuktane
2
,
Susan Joiner
1
,
Tracy Campbell
1
,
Catherine Morgan
3
,
Benjamin Wakerley
3
,
Farhad Golestani
3
,
Peter Rudge
4
,
Simon Mead
4
,
H Rolf Jäger
4
,
Jonathan D F Wadsworth
4
,
Sebastian Brandner
4
,
John Collinge
4
Affiliations
1
University College London Institute of Neurology, London, United Kingdom.
2
University College London Hospitals NHS Foundation Trust, London, United Kingdom.
3
Gloucestershire Hospitals NHS Foundation Trust, Gloucester, United Kingdom.
4
University College London Institute of Neurology, London, United Kingdom jc@prion.ucl.ac.uk.
PMID:
28099827
DOI:
10.1056/NEJMc1610003
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adult
Brain / diagnostic imaging
Brain / pathology
Creutzfeldt-Jakob Syndrome / genetics*
Fatal Outcome
Heterozygote
Humans
Magnetic Resonance Imaging
Male
Prion Proteins / genetics*
Substances
Prion Proteins
Grants and funding
MC_U123160651/MRC_/Medical Research Council/United Kingdom
MC_UU_00024/5/MRC_/Medical Research Council/United Kingdom
G0501747/MRC_/Medical Research Council/United Kingdom
MC_U123160657/MRC_/Medical Research Council/United Kingdom
MC_U123160655/MRC_/Medical Research Council/United Kingdom
MC_UU_00024/9/MRC_/Medical Research Council/United Kingdom