AustralieFrV1, Main, Exploration, bibRecord, 00A615

Genetic prion disease : the EUROCJD experience

Identifieur interne : 00A615 ( Main/Exploration ); précédent : 00A614; suivant : 00A616

Genetic prion disease : the EUROCJD experience

Auteurs : Gabor G. Kovacs [Autriche] ; Maria Puopolo [Italie] ; Anna Ladogana [Italie] ; Maurizio Pocchiari [Italie] ; Herbert Budka [Autriche] ; Cornelia Van Duijn [Pays-Bas] ; Steven J. Collins [Australie] ; Alison Boyd [Australie] ; Antonio Giulivi [Canada] ; Mike Coulthart [Canada] ; Nicole Delasnerie-Laupretre [France] ; Jean Philippe Brandel [France] ; Inga Zerr [Allemagne] ; Hans A. Kretzschmar [Allemagne] ; Jesus De Pedro-Cuesta [Espagne] ; Miguel Calero-Lara [Espagne] ; Markus Glatzel [Suisse] ; Adriano Aguzzi [Suisse] ; Matthew Bishop [Royaume-Uni] ; Richard Knight [Royaume-Uni] ; Girma Belay [Slovaquie] ; Robert Will [Slovaquie] ; Eva Mitrova [Slovaquie]

Source :

Human genetics [ 0340-6717 ] ; 2005.

RBID : Pascal:06-0080350

Descripteurs français

Pascal (Inist)
- Génétique, Maladie héréditaire, Prion maladie.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Genetic disease, Genetics, Prion disease.

Abstract

A total of 10-15% of human transmissible spongiform encephalopathies (TSEs) or prion diseases are characterised by disease-specific mutations in the prion protein gene (PRNP). We examined the phenotype, distribution, and frequency of genetic TSEs (gTSEs) in different countries/geographical regions. We collected standardised data on gTSEs between 1993 and 2002 in the framework of the EUROCJD collaborative surveillance project. Our results show that clinicopathological phenotypes include genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker disease (GSS). Genetic TSE patients with insert mutation in the PRNP represent a separate group. Point and insertional mutations in the PRNP gene varies significantly in frequency between countries. The commonest mutation is E200K. Absence of a positive family history is noted in a significant proportion of cases in all mutation types (12-88%). FFI and GSS patients develop disease earlier than gCJD. Base pair insertions associated with the Creutzfeldt-Jakob disease (CJD) phenotype, GSS, and FFI cases have a longer duration of illness compared to cases with point mutations and gCJD. Cerebrospinal fluid 14-3-3 immunoassay, EEG, and MRI brain scan are useful in the diagnosis of CJD with point mutations, but are less sensitive in the other forms. Given the low prevalence of family history, the term "gTSE" is preferable to "familial TSE". Application of genetic screening in clinical practice has the advantage of early diagnosis and may lead to the identification of a risk of a TSE.

Affiliations:

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Le document en format XML

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<author><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
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<author><name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A." last="Kretzschmar">Hans A. Kretzschmar</name>
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<author><name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>National CJD Surveillance Unit, Western General Hospital</s1>
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<author><name sortKey="Will, Robert" sort="Will, Robert" uniqKey="Will R" first="Robert" last="Will">Robert Will</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institute of Preventive and Clinical Medicine, Research Base of Slovak Medical University, National Reference Centre of prion Diseases, Limbova 14</s1>
<s2>833 01 Bratislava</s2>
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<author><name sortKey="Pocchiari, Maurizio" sort="Pocchiari, Maurizio" uniqKey="Pocchiari M" first="Maurizio" last="Pocchiari">Maurizio Pocchiari</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena 299</s1>
<s2>00161 Rome</s2>
<s3>ITA</s3>
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<author><name sortKey="Budka, Herbert" sort="Budka, Herbert" uniqKey="Budka H" first="Herbert" last="Budka">Herbert Budka</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Austrian Reference Centre for Human Prion Diseases (OERPE) and Institute of Neurology, Medical University AKH 4J, Waehringer Guertel 18-20</s1>
<s2>1097 Vienna</s2>
<s3>AUT</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
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</placeName>
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<author><name sortKey="Van Duijn, Cornelia" sort="Van Duijn, Cornelia" uniqKey="Van Duijn C" first="Cornelia" last="Van Duijn">Cornelia Van Duijn</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Epidemiology and Biostatistics, Erasmus MC, PO Box 1738</s1>
<s2>3000 DR, Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collins, Steven J" sort="Collins, Steven J" uniqKey="Collins S" first="Steven J." last="Collins">Steven J. Collins</name>
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<s2>Parkville. Victoria. 3052</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
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</author>
<author><name sortKey="Boyd, Alison" sort="Boyd, Alison" uniqKey="Boyd A" first="Alison" last="Boyd">Alison Boyd</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Pathology. The University of Melbourne</s1>
<s2>Parkville. Victoria. 3052</s2>
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<sZ>7 aut.</sZ>
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</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
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</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Giulivi, Antonio" sort="Giulivi, Antonio" uniqKey="Giulivi A" first="Antonio" last="Giulivi">Antonio Giulivi</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Blood Safety Surveillance and Health Care Acquired Infections Division, The Centre for Infectious Disease Prevention and Control, LCDC Building, PL 0601E2, Tunney's Pasture</s1>
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<sZ>9 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Ottawa, ON. K1A 0L2</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coulthart, Mike" sort="Coulthart, Mike" uniqKey="Coulthart M" first="Mike" last="Coulthart">Mike Coulthart</name>
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<s2>Winnipeg, MB</s2>
<s3>CAN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Winnipeg, MB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Delasnerie Laupretre, Nicole" sort="Delasnerie Laupretre, Nicole" uniqKey="Delasnerie Laupretre N" first="Nicole" last="Delasnerie-Laupretre">Nicole Delasnerie-Laupretre</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>U.360 INSERM, Hopital de la Salpetriere</s1>
<s2>75651 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75651 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean Philippe" last="Brandel">Jean Philippe Brandel</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>U.360 INSERM, Hopital de la Salpetriere</s1>
<s2>75651 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75651 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
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<s2>37075 Gottingen</s2>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Göttingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A." last="Kretzschmar">Hans A. Kretzschmar</name>
<affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Institute of Neuropathology, University of Munich, Marchioninistr. 17</s1>
<s2>81377 Munich</s2>
<s3>DEU</s3>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="De Pedro Cuesta, Jesus" sort="De Pedro Cuesta, Jesus" uniqKey="De Pedro Cuesta J" first="Jesus" last="De Pedro-Cuesta">Jesus De Pedro-Cuesta</name>
<affiliation wicri:level="2"><inist:fA14 i1="10"><s1>Departamento de Epidemiologia Aplicada, Instituto de Salud Carlos III, Centro Nacional de Epidemiologia, Calle Sinesio Delgado 6</s1>
<s2>28029 Madrid</s2>
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<country>Espagne</country>
<placeName><region nuts="2" type="communauté">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calero Lara, Miguel" sort="Calero Lara, Miguel" uniqKey="Calero Lara M" first="Miguel" last="Calero-Lara">Miguel Calero-Lara</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Centro National de Microbiologia Unidad de Encefalopatias Espongiformes, Ctra Majadakonda-Pozuelo km2</s1>
<s2>28220 Majadakonda, Madrid</s2>
<s3>ESP</s3>
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<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Glatzel, Markus" sort="Glatzel, Markus" uniqKey="Glatzel M" first="Markus" last="Glatzel">Markus Glatzel</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Swiss National Reference Centre for Prion Diseases, University Hospital of Zurich, Schmelzbergstrasse 12</s1>
<s2>8091 Zurich</s2>
<s3>CHE</s3>
<sZ>17 aut.</sZ>
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</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>8091 Zurich</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Aguzzi, Adriano" sort="Aguzzi, Adriano" uniqKey="Aguzzi A" first="Adriano" last="Aguzzi">Adriano Aguzzi</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Swiss National Reference Centre for Prion Diseases, University Hospital of Zurich, Schmelzbergstrasse 12</s1>
<s2>8091 Zurich</s2>
<s3>CHE</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>8091 Zurich</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bishop, Matthew" sort="Bishop, Matthew" uniqKey="Bishop M" first="Matthew" last="Bishop">Matthew Bishop</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>National CJD Surveillance Unit, Western General Hospital</s1>
<s2>Edinburgh. EH4 2XU</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh. EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>National CJD Surveillance Unit, Western General Hospital</s1>
<s2>Edinburgh. EH4 2XU</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh. EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Belay, Girma" sort="Belay, Girma" uniqKey="Belay G" first="Girma" last="Belay">Girma Belay</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institute of Preventive and Clinical Medicine, Research Base of Slovak Medical University, National Reference Centre of prion Diseases, Limbova 14</s1>
<s2>833 01 Bratislava</s2>
<s3>SVK</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Slovaquie</country>
<wicri:noRegion>833 01 Bratislava</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Will, Robert" sort="Will, Robert" uniqKey="Will R" first="Robert" last="Will">Robert Will</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institute of Preventive and Clinical Medicine, Research Base of Slovak Medical University, National Reference Centre of prion Diseases, Limbova 14</s1>
<s2>833 01 Bratislava</s2>
<s3>SVK</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Slovaquie</country>
<wicri:noRegion>833 01 Bratislava</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mitrova, Eva" sort="Mitrova, Eva" uniqKey="Mitrova E" first="Eva" last="Mitrova">Eva Mitrova</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institute of Preventive and Clinical Medicine, Research Base of Slovak Medical University, National Reference Centre of prion Diseases, Limbova 14</s1>
<s2>833 01 Bratislava</s2>
<s3>SVK</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Slovaquie</country>
<wicri:noRegion>833 01 Bratislava</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Human genetics</title>
<title level="j" type="abbreviated">Hum. genet.</title>
<idno type="ISSN">0340-6717</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Human genetics</title>
<title level="j" type="abbreviated">Hum. genet.</title>
<idno type="ISSN">0340-6717</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic disease</term>
<term>Genetics</term>
<term>Prion disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Génétique</term>
<term>Maladie héréditaire</term>
<term>Prion maladie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A total of 10-15% of human transmissible spongiform encephalopathies (TSEs) or prion diseases are characterised by disease-specific mutations in the prion protein gene (PRNP). We examined the phenotype, distribution, and frequency of genetic TSEs (gTSEs) in different countries/geographical regions. We collected standardised data on gTSEs between 1993 and 2002 in the framework of the EUROCJD collaborative surveillance project. Our results show that clinicopathological phenotypes include genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker disease (GSS). Genetic TSE patients with insert mutation in the PRNP represent a separate group. Point and insertional mutations in the PRNP gene varies significantly in frequency between countries. The commonest mutation is E200K. Absence of a positive family history is noted in a significant proportion of cases in all mutation types (12-88%). FFI and GSS patients develop disease earlier than gCJD. Base pair insertions associated with the Creutzfeldt-Jakob disease (CJD) phenotype, GSS, and FFI cases have a longer duration of illness compared to cases with point mutations and gCJD. Cerebrospinal fluid 14-3-3 immunoassay, EEG, and MRI brain scan are useful in the diagnosis of CJD with point mutations, but are less sensitive in the other forms. Given the low prevalence of family history, the term "gTSE" is preferable to "familial TSE". Application of genetic screening in clinical practice has the advantage of early diagnosis and may lead to the identification of a risk of a TSE.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Canada</li>
<li>Espagne</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Slovaquie</li>
<li>Suisse</li>
</country>
<region><li>Basse-Saxe</li>
<li>Bavière</li>
<li>Communauté de Madrid</li>
<li>District de Haute-Bavière</li>
<li>Hollande-Méridionale</li>
<li>Latium</li>
<li>Victoria (État)</li>
<li>Vienne (Autriche)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Göttingen</li>
<li>Madrid</li>
<li>Melbourne</li>
<li>Munich</li>
<li>Paris</li>
<li>Rome</li>
<li>Rotterdam</li>
<li>Vienne (Autriche)</li>
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<orgName><li>Université Louis-et-Maximilien de Munich</li>
<li>Université de Melbourne</li>
</orgName>
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<tree><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Kovacs, Gabor G" sort="Kovacs, Gabor G" uniqKey="Kovacs G" first="Gabor G." last="Kovacs">Gabor G. Kovacs</name>
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<name sortKey="Budka, Herbert" sort="Budka, Herbert" uniqKey="Budka H" first="Herbert" last="Budka">Herbert Budka</name>
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<country name="Italie"><region name="Latium"><name sortKey="Puopolo, Maria" sort="Puopolo, Maria" uniqKey="Puopolo M" first="Maria" last="Puopolo">Maria Puopolo</name>
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<country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Van Duijn, Cornelia" sort="Van Duijn, Cornelia" uniqKey="Van Duijn C" first="Cornelia" last="Van Duijn">Cornelia Van Duijn</name>
</region>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Collins, Steven J" sort="Collins, Steven J" uniqKey="Collins S" first="Steven J." last="Collins">Steven J. Collins</name>
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<name sortKey="Boyd, Alison" sort="Boyd, Alison" uniqKey="Boyd A" first="Alison" last="Boyd">Alison Boyd</name>
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<country name="Canada"><noRegion><name sortKey="Giulivi, Antonio" sort="Giulivi, Antonio" uniqKey="Giulivi A" first="Antonio" last="Giulivi">Antonio Giulivi</name>
</noRegion>
<name sortKey="Coulthart, Mike" sort="Coulthart, Mike" uniqKey="Coulthart M" first="Mike" last="Coulthart">Mike Coulthart</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Delasnerie Laupretre, Nicole" sort="Delasnerie Laupretre, Nicole" uniqKey="Delasnerie Laupretre N" first="Nicole" last="Delasnerie-Laupretre">Nicole Delasnerie-Laupretre</name>
</region>
<name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean Philippe" last="Brandel">Jean Philippe Brandel</name>
</country>
<country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
</region>
<name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A." last="Kretzschmar">Hans A. Kretzschmar</name>
</country>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="De Pedro Cuesta, Jesus" sort="De Pedro Cuesta, Jesus" uniqKey="De Pedro Cuesta J" first="Jesus" last="De Pedro-Cuesta">Jesus De Pedro-Cuesta</name>
</region>
<name sortKey="Calero Lara, Miguel" sort="Calero Lara, Miguel" uniqKey="Calero Lara M" first="Miguel" last="Calero-Lara">Miguel Calero-Lara</name>
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<country name="Suisse"><noRegion><name sortKey="Glatzel, Markus" sort="Glatzel, Markus" uniqKey="Glatzel M" first="Markus" last="Glatzel">Markus Glatzel</name>
</noRegion>
<name sortKey="Aguzzi, Adriano" sort="Aguzzi, Adriano" uniqKey="Aguzzi A" first="Adriano" last="Aguzzi">Adriano Aguzzi</name>
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<country name="Royaume-Uni"><noRegion><name sortKey="Bishop, Matthew" sort="Bishop, Matthew" uniqKey="Bishop M" first="Matthew" last="Bishop">Matthew Bishop</name>
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<name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
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<country name="Slovaquie"><noRegion><name sortKey="Belay, Girma" sort="Belay, Girma" uniqKey="Belay G" first="Girma" last="Belay">Girma Belay</name>
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<name sortKey="Mitrova, Eva" sort="Mitrova, Eva" uniqKey="Mitrova E" first="Eva" last="Mitrova">Eva Mitrova</name>
<name sortKey="Will, Robert" sort="Will, Robert" uniqKey="Will R" first="Robert" last="Will">Robert Will</name>
</country>
</tree>
</affiliations>
</record>

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Genetic prion disease : the EUROCJD experience

Genetic prion disease : the EUROCJD experience

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