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From: TSS ()
Subject: Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc Type in a Young British Woman
Date: January 2, 2008 at 1:24 pm PST

CJD, PrP Codon 129VV, Novel PrPSc in a Young British WomanWed Jan 2, 2008 16:5071.248.140.49

Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc
Type in a Young British Woman
Simon Mead, PhD, MRCP; Susan Joiner, MSc; Melanie Desbruslais, BSc; Jonathan
A. Beck, BSc; Michael O’Donoghue, PhD; Peter Lantos, FRCP; Jonathan D. F.
Wadsworth, PhD; John Collinge, FRS

Arch Neurol. 2007;64(12):1780-1784.

Background Variant Creutzfeldt-Jakob disease (vCJD) is an acquired prion
disease causally related to bovine spongiform encephalopathy that has
occurred predominantly in young adults. All clinical cases studied have been
methionine homozygotes at codon 129 of the prion protein gene (PRNP) with
distinctive neuropathological findings and molecular strain type (PrPSc type
4). Modeling studies in transgenic mice suggest that other PRNP genotypes
will also be susceptible to infection with bovine spongiform encephalopathy
prions but may develop distinctive phenotypes.

Objective To describe the histopathologic and molecular investigation in a
young British woman with atypical sporadic CJD and valine homozygosity at
PRNP codon 129.

Design Case report, autopsy, and molecular analysis.

Setting Specialist neurology referral center, together with the laboratory
services of the MRC [Medical Research Council] Prion Unit.

Subject Single hospitalized patient.

Main Outcome Measures Autopsy findings and molecular investigation results.

Results Autopsy findings were atypical of sporadic CJD, with marked gray
and white matter degeneration and widespread prion protein (PrP) deposition.
Lymphoreticular tissue was not available for analysis. Molecular analysis of
PrPSc (the scrapie isoform of PrP) from cerebellar tissue demonstrated a
novel PrPSc type similar to that seen in vCJD (PrPSc type 4). However, this
could be distinguished from the typical vCJD pattern by an altered protease
cleavage site in the presence of the metal ion chelator EDTA.

Conclusions Further studies will be required to characterize the prion
strain seen in this patient and to investigate its etiologic relationship
with bovine spongiform encephalopathy. This case illustrates the importance
of molecular analysis of prion disease, including the use of EDTA to
investigate the metal dependence of protease cleavage patterns of PrPSc.

Author Affiliations: MRC [Medical Research Council] Prion Unit and
Department of Neurodegenerative Disease, Institute of Neurology, University
College London, National Hospital for Neurology and Neurosurgery, London,
England (Drs Mead, Wadsworth, and Collinge; Mss Joiner and Desbruslais; and
Mr Beck); and Institute of Psychiatry, King's College London (Dr Lantos). Dr
O’Donoghue is now with the Department of Clinical Neurology, Nottingham
University Hospitals NHS [National Health Service] Trust, Nottingham,

Monitoring the occurrence of emerging forms of Creutzfeldt-Jakob disease in
the United States



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