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From: TSS (wt-d6-168.wt.net)
Subject: RI characteristics of sporadic CJD with valine homozygosity at codon 129 of the prion protein gene and PrPSc type 2 in Japan
Date: February 13, 2004 at 7:45 pm PST
-------- Original Message --------
Subject: MRI characteristics of sporadic CJD with valine homozygosity at codon 129 of the prion protein gene and PrPSc type 2 in Japan
Date: Fri, 13 Feb 2004 21:21:40 -0600
From: "Terry S. Singeltary Sr."
To: BSE-l
CC: CJDVOICE
MRI characteristics of sporadic CJD with valine homozygosity at
codon 129 of the prion protein gene and PrPSc type 2 in Japan
R Fukushima1, Y Shiga2, M Nakamura1, J Fujimori2, T Kitamoto3 and Y
Yoshida4 1 The Second Department of Internal Medicine, Hiraka General Hospital,
Yokote, Japan
2 Departments of Neurology, Tohoku University School of Medicine,
Sendai, Japan
3 Departments of Neurological Science, Tohoku University School of
Medicine, Sendai, Japan
4 Department of Pathology, Research Institute for Brain and Blood
Vessels-Akita, Japan Correspondence to:
Dr R Fukushima
The Second Department of Internal Medicine, Hiraka General Hospital,
1-30 Ekimae-cho, Yokote 013-8610, Japan; fukutami@rnac.ne.jp ABSTRACT
Two Japanese sporadic Creutzfeld-Jakob disease (sCJD) patients with
valine homozygosity at codon 129 of the prion protein gene and
protease-resistant prion protein (PrPSc) type 2 (VV2) are described. In
contrast with Western countries, this type of sCJD is very rare in
Japan. In 123 sCJD cases, only two were recognised as VV2 by the
Japanese CJD surveillance committee. The clinical symptoms and
pathological findings of the patients were similar to those of European
and US patients. The noteworthy finding of diffusion weighted MRI (DWI)
was that an abnormal high intensity covered a wide range of the thalamus
including the dorsomedial nucleus, the pulvinar, and the ventral
anterior, lateral, and posterolateral nuclei. This thalamic pattern has
not been recognised in sCJD with methionine homozygosity and PrPSc type
1 (MM1) or methionine/valine heterozygosity and PrPSc type 1 (MV1) which
comprises the vast majority of sCJD. This finding may be characteristic
to VV2 and may distinguish it from MM1, MV1, and variant CJD. DWI can
provide a very important clue for the antemortem diagnosis of VV2 subjects. ------------------------------------------------------------------------ Keywords: sporadic Creutzfeldt-Jakob disease; uncommon variant; prion
protein; polymorphism at codon 129; diffusion-weighted MRI Abbreviations: DWI, diffusion weighted MRI; EEG, electroencephalogram;
PRNP, prion protein gene; PrP, prion protein; PSWC, periodic sharp and
slow wave complexes; sCJD, sporadic Creutzfeld-Jakob disease; vCJD,
variant Creutzfeldt-Jakob disease TSS
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