Ludzkie koronawirusy - autor: Krzysztof Pyrć z Zakładu Mikrobiologii, Wydział Biochemii, Biofizyki i Biotechnologii, Uniwersytet Jagielloński, Kraków

Zastanawiasz się, jak wydać pracę doktorską, habilitacyjną lub monografię? Chcesz dokonać zmian w stylistyce i interpunkcji tekstu naukowego? Nic prostszego! Zaufaj Wydawnictwu Borgis – wydawcy renomowanych książek i czasopism medycznych. Zapewniamy przede wszystkim profesjonalne wsparcie w przygotowaniu pracy, opracowanie dokumentacji oraz druk pracy doktorskiej, magisterskiej, habilitacyjnej. Dzięki nam nie będziesz musiał zajmować się projektowaniem okładki oraz typografią książki.

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© Borgis - Postępy Nauk Medycznych 4/2010, s. 282-288
*Paweł P. Liberski1, Beata Sikorska2, Caspar Jansen3, James W. Ironside4
Creutzfeldt-Jakob disease in old age
Choroba Creutzfeldta-Jakoba w późnym wieku
1,2Department of Molecular Pathology & Neuropathology, Medical University Lodz, Poland
Head: prof. Paweł P. Liberski
3Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Department of Pathology, Utrecht, The Netherlands
4National CJD Surveillance Unit, University of Edinburgh Western General Hospital, Edinburgh, UK
Streszczenie
W pracy omówiono problemy choroby Creutzfeldta-Jakoba (CJD) w wieku podeszłym. Szybkie przeszukanie austriackiej bazy danych wykazało 17 przypadków pomiędzy 70.-75. rokiem życia; 10 przypadków: 76.-79. rok życia; 11 przypadków: 80.-85. rok życia, ale tylko jeden przypadek w 86. roku życia. W Holandii, ze 150 zarejestrowanych przypadków CJD, w latach 1998-2008, 39 występowało pomiędzy 70. a 75. rokiem życia (lub 28 jeśli 70. rok życia nie jest włączony do statystyki); 15 przypadków: 76.-79. rok życia; 9 przypadków: 80.-85. rok życia i żaden w 86. roku życia lub powyżej. W UK, spośród 1089 chorych na sporadyczną postać CJD, 42% odnotowano u osób powyżej 70. rokiem życia pomiędzy majem 1990 r. a listopadem 2009 r., obejmując 33% przypadków pomiędzy 70. a 79. rokiem życia i 9% przypadków powyżej 80. roku życia. Analiza polimorfizmu kodonu 129 genu kodującego białko prionu wykazała, że 63% przypadków sCJD to homozygoty Met Met; 18% homozygoty Met Val a 19% heterozygoty Met Val. W przypadkach powyżej 70. roku życia, rozkład ten zmienia się – 68 & Met Met, 16% Val Val i 16% Met Val. Dane polskie są szczególnie intersujace, 6 z 30 przypadków CJD wystapiła powyżej 70. roku życia (20%), stan kodonu 129 był dostępny dla trzech, 2 x Met Met i 1 x Met Val.
Summary
This review covers the problem of Creutzfeldt-Jakob disease (CJD) in the old age. A short inquiry performed for the purpose of this review revealed that in the Austrian database, there were 17 cases between 70-75 years old; 10 cases: 76-79 years old; 11 cases 80-85 years old but only 1 case 86 years old. In the Netherlands, out of a total of 150 CJD patients for years 1998-2008, they were 39 cases between 70 and 75 years of age (or 28 if age 70 is not included); 15 cases: 76-79 years of age; 9 cases: 80-85 years of age but no for 86 year of age or older. In the UK, 42% of 1089 sCJD patients were aged 70 or over at death during the period May 1990-November 2009, comprising 33% of sCJD cases aged 70-79 and 9% of cases aged 80 or over. Analysis of the codon 129 polymorphism in the prion protein gene ( PRNP) in the UK sCJD cases found overall 63% were methionine homozygotes (MM), 18% were valine homozygotes (VV) and 19% were heterozygotes (MV). In the cases age 70 or over at death, the distribution was 68% MM, 16% VV and 16% MV.
The Polish data are very interesting in this respect: there are 6 of 30 cases of sCJD over 70 (20%); the 129 codon data are available for 3, 2 x MM, 1 x MV.
The literature on the subject of this review is very limited.
Introduction
The transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of neurodegenerative disorders which include kuru (1), Creutzfeldt-Jakob disease (CJD) (2), Gerstmann-Sträussler-Scheinker (GSS) disease (3), and fatal familial insomnia in man (4, 5) natural scrapie in sheep, goats (6-9), and mufflons (10), transmissible mink encephalopathy in ranch-reared mink (11), chronic wasting disease of deer, elk and moose in the USA and Canada (12-16), bovine spongiform encephalopathy or "mad cow disease” (17) and its analogues in several exotic species of antelopes (18-21), and wild felids in Zoological gardens (22), and feline spongiform encephalopathy in domestic cats (23).
These disorders are caused by a still not completely understood pathogen variously referred to as a "prion” or a slow, unconventional or atypical virus, or "virino” (24-27). Despite wide acceptance for the prion theory, these designations still reflect different views about the real molecular structure of the pathogen and, by the same token, our ignorance of its nature. Those who prefer to view this pathogen as composed "predominantly or exclusively” of a pathologically folded (misfolded) protein (PrPres, PrPSc; Sc, from scrapie or PrPd; d, from disease; PrPTSE, TSE from transmissible spongiform encephalopathy), use the term "prion” (28-31); hence the term "prion diseases” (25, 32, 33).
In 1995 Budka et al. (34) published a set of criteria to diagnose human TSEs on the basis of classical neuropathological staining and immunohistochemistry.
1. Creutzfeldt-Jakob disease
1.1. Spongiform encephalopathy in cerebral/or cerebellar cortex and/or subcortical gray matter
1.2. Encephalopathy with PrP immunoreactivity (plaque and/or diffuse synaptic and/or patchy/perivacuolar types)
2. Gerstmann-Sträussler-Scheinker disease (GSS). Encephalomyelopathy with multicentric PrP plaques
3. Fatal familial insomnia. Thalamic degeneration with focal cerebral spongiform change
4. Kuru (in the Fore population of New Guinea)
sCJD is a disease of the elderly, however, the number of deaths in persons over age 70 and higher is gradually rising. In the early 1970s, it was around 1 per year and in recent days, it is around 30 per year (35). Furthermore, the meadian ages of cases during time periods 1970-89, 1990-95 and 1996-2008 also increased from 64 years, through 66 years to 68 years, respectively. A short inquiry performed for the purpose of this review revealed that in the Austrian database, there were 17 cases between 70-75 years old; 10 cases: 76-79 years old; 11 cases 80-85 years old but only 1 case 86 years old. In the Netherlands, out of a total of 150 CJD patients for years 1998-2008, they were 39 cases between 70 and 75 years of age (or 28 if age 70 is not included); 15 cases: 76-79 years of age; 9 cases: 80-85 years of age but non for 86 year of age or older. In the UK, 42% of 1089 sCJD patients were aged 70 or over at death during the period May 1990-November 2009, comprising 33% of sCJD cases aged 70-79 and 9% of cases aged 80 or over (fig. 1). Analysis of the codon 129 polymorphism in the prion protein gene ( PRNP) in the UK sCJD cases found overall 63% were methionine homozygotes (MM), 18% were valine homozygotes (VV) and 19% were heterozygotes (MV). In the cases aged 70 or over at death, the distribution was 68% MM, 16% VV and 16% MV.
Fig. 1. (upper panel) Age at death in sCJD (1 May 1990 – 10 November 2009; n = 1089); (lower panel), PRNP codon 129 distribution.
The Polish data are very interesting in this respect: there are 6 of 30 cases of sCJD over 70 (20%); the 129 codon data are available for 3, 2 x MM, 1 x MV.
The literature on the subject of this review is very limited.
De Silva and colleagues (36) reviewed 12 cases over 80 years of age and added a case of 86-year-old CJD patient. The duration of disease for those 12 cases ranged between 1 and 5 months, the EEG showed PSWCs in 6 cases but was atypical in another six, and they presented as rather typical sCJD. The 86-year-old age case presented with disorientation and self-neglect, jerky limb movement and on EEG, slow background rhythms and periodic complexes. Terminally, she had frontal release signs. Neuropathological examination revealed spongiform change and immunoexpression of PrPSc.
The oldest case was published by Buganza et al. (37). This was a 98-year-old patient admitted to the hospital because of an ataxic gait of 10 days duration. The following day – myoclonic jerks were observed, followed by – generalized seizures. The EEG revealed continued seizure activity turned into periodic sharp wave complexes (PSWCs), otherwise typical for CJD. Western blot analysis revealed type 1 PrPSc, and molecular analysis revealed that the patient was a Methionine homozygote at the 129 codon of the PRNP gene. Neuropathological examination showed widespread spongiform change and diffuse PrP-immunoexpression.
There are several points to be raised by those very limited observations. First, all those cases presented as typical sCJD. The only possible exception is generalized seizures in the case of Buganza et al. (37). Of note, Collins et al. (38) described a case of 82-year-old woman who also presented with generalized seizures. However, that case was not only a methionine homozygote, but also a carrier of T188A mutation. Thus, it is tempting to speculate that seizures may be a sign of CJD in the elderly.
Those old CJD cases are also interesting from a pathogenetic perspective. According to the prion theory, sCJD may be caused by a stochastic event of a change of a normal PrP isoform into its pathologic counterpart. However, if this is really a stochastic event, it should be time-dependent, thus the number of sCJD cases should increase with age and definitively the reverse is observed (fig. 2-3), the number of sCJD cases in – old age is small.
Fig. 2. Age-specific mortality rates from sporadic CJD in the UK 1970-2008. Courtesy of Prof. Robert Will, NCJDSU, Edinburgh, UK.
Fig. 3. Trends in mortality from sporadic CJD by age: 1970-2008. Courtesy of Prof. Robert Will, NCJDSU, Edinburgh, UK.
Variant CJD (vCJD) is worthy of separate consideration. vCJD is caused by a passage of BSE from bovine to humans and occurs in younger patients. However, Lorains et al. (39) described a unique vCJD case in a 74-year-old patient. He presented to the hospital with psychiatric symptoms, visual hallucinations and delusions of 1 month duration. His cognitive state declined, and he died with bilateral bronchopneumonia. At autopsy, abundant florid plaques, typical for vCJD were found in the brain and widespread PrPSc immunoreactivity was detected. As – for all definite vCJD cases this case was a methionine homozygote at codon 129 in the PRNP gene.

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otrzymano: 2010-01-20
zaakceptowano do druku: 2010-03-03

Adres do korespondencji:
*Paweł P. Liberski
Department of Molecular Pathology & Neuropathology,
Medical University Łódź
ul. Czechosłowacka 8/10, 92-216 Łódź
e-mail: ppliber@csk.am.lodz.pl.

Postępy Nauk Medycznych 4/2010
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