A ProMED-mail post
ProMED-mail is a program of the
International Society for Infectious Diseases
[With the continuing decline of the number of cases in the human population
of variant Creutzfeldt-Jakob disease -- abbreviated previously as vCJD or
CJD (new var.) in ProMED-mail -- it has been decided to broaden the scope
of the occasional ProMED-mail updates to include other prion-related
diseases. In addition to vCJD, data on other forms of CJD: sporadic,
iatrogenic, familial, and GSS (Gerstmann-Straussler-Scheinker disease) are
included also since they may have some relevance to the incidence and
etiology of vCJD. - Mod.CP]
In this update:
[1] UK: National CJD Surveillance Unit -- monthly statistics as of Mon 6
Sep 2010 -- no new vCJD cases
[2] France: Institut de Veille Sanitaire -- monthly statistics as of Wed 1
Sep 2010 -- no new vCJD cases
[3] USA - National Prion Disease Pathology Surveillance Center -- Sat 31
Aug 2010
[4] New sporadic prion disease
******
[1] UK: National CJD Surveillance Unit -- monthly statistics as of Mon 6
Sep 2010 -- no new vCJD cases
Date: Mon 6 Sep 2010
Source: UK National CJD Surveillance Unit, monthly statistics [edited]
The number of deaths due to definite or probable vCJD cases remains 169. A
total of 4 definite/probable patients are still alive so that the total
number of definite or probable vCJD cases is still 173. So far, 2
fatalities have been recorded in 2010.
Although 3 new deaths due to vCJD were recorded in 2009 and 2 deaths so far
in 2010, the overall picture is still consistent with the view that the
vCJD outbreak in the UK is in decline, albeit now with a pronounced tail.
The 1st cases were observed in 1995, and the peak number of deaths was 28
in the year 2000, followed by 20 in 2001, 17 in 2002, 18 in 2003, 9 in
2004, 5 in 2005, 5 in 2006, 5 in 2007, one in 2008, 3 in 2009, and now 2 so
far in 2010.
Totals for all types of CJD cases in the UK so far in the year 2010
-------------------------------------------------------------------
During the 1st 8 months of 2010, there have been 95 referrals, 29 fatal
cases of sporadic CJD, 2 fatal cases of vCJD, 2 cases of iatrogenic CJD,
and single cases of familial CJD and GSS.
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[2] France: Institut de Veille Sanitaire -- monthly statistics as of 1 Sep
2010 -- no new vCJD cases
Date: Wed 1 Sep 2010
Source: IVS - Maladie de Creutzfeldt-Jakob et maladies apparentees [in
French, trans. & summ. Mod.CP, edited]
During the 1st 8 months of 2010, there were 1090 referrals, 47 confirmed
cases of sporadic CJD, one case of familial CJD, and no cases of iatrogenic
CJD or vCJD.
A total of 25 cases of confirmed or probable vCJD have now been recorded in
France since records began in 1992. There was 1 case in 1996, 1 in 2000, 1
in 2001, 3 in 2002, 2 in 2004, 6 in 2005, 6 in 2006, 3 in 2007, 2 in 2009,
and none so far in 2010.
The 25 confirmed cases comprise 13 females and 12 males. All 25 are now
deceased. Their median age is 37 (between 19 and 58). 7 were resident in
the Ile-de-France and 18 in the provinces. All the identified cases have
been Met-Met homozygotes. No risk factor has been identified. One of the 25
had made frequent visits to the United Kingdom.
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[3] USA - NPDPSC 31 Aug 2010 -- no indigenous vCJD cases
Date: Sat 31 Aug 2010
Source: US National Prion Disease Pathology Surveillance Center [edited]
During the 8 month period 1 Jan 2010 to 31 Aug 2010, there were 204
referrals, 124 of whom were classified as prion disease, comprising 85
cases of sporadic CJD, 20 of familial CJD, and no cases of iatrogenic CJD
or vCJD.
Since 1996 when records began there have been 3702 referrals, of which 2177
were classified as prion disease, comprising 1834 cases of sporadic CJD,
315 of familial CJD, 4 of iatrogenic CJD, and 3 of vCJD. The 3 cases of
VCJD, 2 were considered to have been contracted in in the United Kingdom
and one Saudi Arabia. The prion disease category includes 21 (19 in 2010)
cases with type determination pending in which vCJD has been excluded.
[There is a striking difference in the frequency of familial (genetic) CJD
in the three countries. In the UK familial CJD accounts for about 5 per
cent of all cases of CJD, in France it is about 2.4 to 5 per cent, whereas
in the USA it is 16 per cent. The relevant demographic and/or genetic
factors merit investigation. - Mod.CP]
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[4] New sporadic prion disease
Date: Fri 13 Aug 2010
Source: Science Daily [edited]
New sporadic prion protein disease:
variably protease-sensitive prionopathy shares genotype characteristics
with Creutzfeldt-Jakob
-----------------------------------------------------------------------
A new sporadic prion protein disease has been discovered. Variably
protease-sensitive prionopathy (VPSPr), as it has been named, is the 2nd
type of complete sporadic disease to be identified since Creutzfeldt-Jakob
disease (CJD) was reported in the 1920s. The landmark finding from the
National Prion Disease Pathology Surveillance Center at Case Western
Reserve University is published in the August [2010] issue of Annals of
Neurology [see abstract below].
Normally, the human prion protein gene comes in 3 types due to its
capability to encode prion proteins that contain only the amino acid
methionine, commonly identified as M, both methionine and valine, commonly
identified as V, or only for the amino acid valine at position 129.
Therefore, when it comes to the prion protein gene unaffected people can be
identified as 129MM, 129MV or 129VV. Sporadic CJD (sCJD), which is the most
common human prion disease, can affect patients who have any one of the 3
types of the prion protein gene.
In 2008, Pierluigi Gambetti and Wen-Quan Zou, with collaborators, reported
the discovery of this novel disease, which affected patients who exhibit
only one of the 3 types of the prion protein gene. In this follow-up study,
they discovered that all 3 genetic groups can be affected also by this
novel disease which now joins sCJD in displaying this feature. However,
VPSPr is associated with an abnormal prion protein that exhibits
characteristics very different from those of sCJD, as well as other prion
diseases, suggesting that it may be caused by a different mechanism,
perhaps more akin to other neurodegenerative diseases, such as Alzheimer's
disease. This finding may exemplify, for the 1st time, the possibility that
the prion protein affects the brain with different mechanisms.
While examining cases received at the National Prion Disease Pathology
Surveillance Center where he is the director, Dr Gambetti observed that a
subset of cases had clinical and pathological features quite different from
those of all known types of human prion diseases. Further, after being
tested for prion proteins via the Western blot [technique] -- the gold
standard of prion disease diagnosis -- the cases were negative. Dr Gambetti
then collaborated with Dr Zou, associate director at the center, to solve
the riddle of a disease that exhibited some features of a prion disease in
histopathological examination but was negative using the standard Western
blot test.
Dr Zou's lab performed a full characterization of the disease and
discovered that the VPSPr-associated abnormal prion protein formed a
ladder-like electrophoretic profile on Western blotting. "When I obtained
the 1st Western blot result of these cases with a different antibody
against prions, I was surprised that these cases consistently exhibited
this particular profile; one that I had never seen in my more than 10 years
of work on human prion diseases," Dr Zou, assistant professor of pathology
at Case Western Reserve School of Medicine, recalls. This ladder-like
profile is quite distinctive and very different from the profile of common
prion diseases. "Discovery of this unique type of prion provides solid
evidence that this novel disease may possess a pathogenesis that is
different from that of the major prion diseases currently known," Dr Zou adds.
Despite extensive research, a relatively large group of neurodegenerative
diseases associated with dementia remain undefined. Before being discovered
and characterized, VPSPr was one of the undefined dementing diseases. The
discovery of VPSPr is chipping away at that group. In the 2 years since its
discovery, more than 30 cases have been reported.
"If, as the current evidence indicates, the VPSPr mechanism of affecting
the brain is different from that of other sporadic prion diseases, such as
sCJD, the discovery of VPSPr would also provide the 1st example that the
prion protein may spontaneously damage the brain with different
mechanisms," concludes Dr Gambetti, professor of pathology at Case Western
Reserve School of Medicine. "This might apply to other dementing illnesses
as well, and has implications for the strategies that need to be followed
to attain a cure."
Drs Gambetti and Zou, along with their extensive research team, plan to
further characterize the abnormal prion protein associated with VPSPr as
well as other important features of the protein, such as the disease's
propensity for transmission upon inoculation and its replication in test
tubes. These features in VPSPr will be compared with those of sCJD to
obtain a complete picture of how the abnormal prion protein attacks the
brain in these 2 diseases.
--
communicated by:
ProMED-mail rapporteur Mary Marshall
[The following is the reference for the paper discussed above followed by
the authors' abstract:
Zou WQ, Puoti G, Xiao X, Yuan J, Qing L, Cali I, et al. Variably
protease-sensitive prionopathy: A new sporadic disease of the prion
protein. Ann Neurol. 2010 Aug;68(2):162-72.
(
Department of Pathology, National Prion Disease Pathology Surveillance
Center, Case Western Reserve University, Cleveland, Ohio.
Abstract
--------
Objective: The objective of the study is to report 2 new genotypic forms of
protease-sensitive prionopathy (PSPr), a novel prion disease described in
2008, in 11 subjects all homozygous for valine at codon 129 of the prion
protein (PrP) gene (129VV). The 2 new PSPr forms affect individuals who are
either homozygous for methionine (129MM) or heterozygous for
methionine/valine (129MV).
Methods: A total of 15 affected subjects with 129MM, 129MV, and 129VV
underwent comparative evaluation at the National Prion Disease Pathology
Surveillance Center for clinical, histopathologic, immunohistochemical,
genotypical, and PrP characteristics.
Results: Disease duration (between 22 and 45 months) was significantly
different in the 129VV and 129MV subjects. Most other phenotypic features
along with the PrP electrophoretic profile were similar but distinguishable
in the 3 129 genotypes. A major difference laid in the sensitivity to
protease digestion of the disease-associated PrP, which was high in 129VV
but much lower, or altogether lacking, in 129MV and 129MM. This difference
prompted the substitution of the original designation with "variably
protease- sensitive prionopathy" (VPSPr). None of the subjects had
mutations in the PrP gene coding region.
Interpretation: Because all 3 129 genotypes are involved, and are
associated with distinguishable phenotypes, VPSPr becomes the 2nd sporadic
prion protein disease with this feature after Creutzfeldt-Jakob disease,
originally reported in 1920. However, the characteristics of the abnormal
prion protein suggest that VPSPr is different from typical prion diseases,
and perhaps more akin to subtypes of Gerstmann-Straussler-Scheinker disease.
VPSPr is not linked to eating infected meat. However, like CJD, the new
condition happens sporadically. It was 1st identified because of the
fast-advancing form of dementia seen in those affected. They were also
unable to speak or move. But tests for CJD proved negative. Further
molecular examination as described above has shown VPSPr was a prion
disease, but one which looked very different to those already known. - Mod.CP]
[see also:
Prion disease update 2010 (07) 20100809.2720
Prion disease update 2010 (06) 20100706.2248
Prion disease update 2010 (05) 20100507.1488
Prion disease update 2010 (04) 20100405.1091
Prion disease update 2010 (03) 20100304.0709
Prion disease update 2010 (02) 20100205.0386
Prion disease update 2010 20100107.0076
2009
---
Prion disease update 2009 (10) 20091103.3784
vCJD - Italy: susp. 20091024.3671
Prion disease update 2009 (09) 20091005.3461
Prion disease update 2009 (08) 20090908.3170
Prion disease update 2009 (07) 20090806.2783
Prion disease update 2009 (06) 20090706.2433
Prion disease update 2009 (05) 20090602.2054
Prion disease update 2009 (04) 20090406.1337
vCJD, 5th death - Spain (Cantabria) 20090307.0953
Prion disease update 2009 (03) 20090305.0918
Prion disease update 2009 (02) 20090202.0463
Prion disease update 2009 (01) 20090108.0076
2008
---
Prion disease update 2008 (14): new vCJD wave imminent? 20081218.3980
Prion disease update 2008 (13) 20081201.3780
Prion disease update 2008 (12) 20081103.345
Prion disease update 2008 (11) 20081006.3159
vCJD, mother & son - Spain: (Leon) 20080926.3051
Prion disease update 2008 (10) 20080902.2742
vCJD - Spain: susp. 20080410.1311
Prion disease update 2008 (05) 20080408.1285
Prion disease update 2008 (01): correction 20080104.0046
Prion disease update 2008 (01) 20080102.0014
2007
---
Prion disease update 2007 (08) 20071205.3923
Prion disease update 2007 (07) 20071105.3602
Prion disease update 2007 (06) 20071003.3269
Prion disease update 2007 (05) 20070901.2879
Prion disease update 2007 (04) 20070806.2560
Prion disease update 2007 (03) 20070702.2112
Prion disease update 2007 (02) 20070604.1812
Prion disease update 2007 20070514.1542
CJD (new var.) update 2007 (05) 20070403.1130
CJD (new var.) update 2007 (04) 20070305.0780
CJD (new var.) update 2007 (03) 20070205.0455
CJD (new var.) update 2007 (02): South Korea, susp 20070115.0199
2006
---
CJD (new var.), blood transfusion risk 20061208.3468
CJD, transmission risk - Canada (ON) 20061207.3457
CJD (new var.) update 2006 (12) 20061205.3431
CJD (new var.) update 2006 (11) 20061106.3190
CJD (new var.) update 2006 (10) 20061002.2820
CJD (new var.) - Netherlands: 2nd case 20060623.1741
CJD (new var.) - UK: 3rd transfusion-related case 20060209.0432
CJD (new var.) update 2006 (02) 20060206.0386
CJD (new var.) update 2006 20060111.0101
2005
---
CJD (new var.) update 2005 (12) 20051209.3547
CJD (new var.) update 2005 (11) 20051108.3270
CJD (new var.) update 2005 (10) 20051006.2916
CJD (new var.) update 2005 (02) 20050211.0467
CJD (new var.) - UK: update 2005 (01) 20050111.0095]
...................cp/ejp/sh
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