Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Identifieur interne : 000A22 ( PubMed/Corpus ); précédent : 000A21; suivant : 000A23Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Auteurs : Annika Plate ; Jens Benninghoff ; Gerald H. Jansen ; Elisabeth Wlasich ; Sabina Eigenbrod ; Alexander Drzezga ; Nathalie L. Jansen ; Hans A. Kretzschmar ; Kai Bötzel ; Dan Rujescu ; Adrian DanekSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- 14-3-3 Proteins (genetics), Amyloid beta-Peptides (cerebrospinal fluid), Antiparkinson Agents (therapeutic use), Codon (genetics), Dopamine Plasma Membrane Transport Proteins (genetics), Female, Gerstmann-Straussler-Scheinker Disease (genetics), Gerstmann-Straussler-Scheinker Disease (physiopathology), Gerstmann-Straussler-Scheinker Disease (psychology), Humans, Indoles (therapeutic use), Middle Aged, Mutation (genetics), Mutation (physiology), Nerve Growth Factors (genetics), Neuropsychological Tests, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (psychology), Peptide Fragments (cerebrospinal fluid), Phosphopyruvate Hydratase (genetics), Polysomnography, Positron-Emission Tomography, Prions (genetics), Receptors, Dopamine D2 (metabolism), Receptors, Dopamine D3 (metabolism), S100 Calcium Binding Protein beta Subunit, S100 Proteins (genetics), tau Proteins (genetics).
- MESH :
- chemical , cerebrospinal fluid : Amyloid beta-Peptides, Peptide Fragments.
- chemical , genetics : 14-3-3 Proteins, Codon, Dopamine Plasma Membrane Transport Proteins, Nerve Growth Factors, Phosphopyruvate Hydratase, Prions, S100 Proteins, tau Proteins.
- chemical , metabolism : Receptors, Dopamine D2, Receptors, Dopamine D3.
- chemical , therapeutic use : Antiparkinson Agents, Indoles.
- genetics : Gerstmann-Straussler-Scheinker Disease, Mutation, Parkinson Disease.
- physiology : Mutation.
- physiopathology : Gerstmann-Straussler-Scheinker Disease, Parkinson Disease.
- psychology : Gerstmann-Straussler-Scheinker Disease, Parkinson Disease.
- Female, Humans, Middle Aged, Neuropsychological Tests, Polysomnography, Positron-Emission Tomography, S100 Calcium Binding Protein beta Subunit.
Abstract
Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.
DOI: 10.1002/mds.25188
PubMed: 23436635
Links to Exploration step
pubmed:23436635Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.</title><author><name sortKey="Plate, Annika" sort="Plate, Annika" uniqKey="Plate A" first="Annika" last="Plate">Annika Plate</name><affiliation><nlm:affiliation>Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Benninghoff, Jens" sort="Benninghoff, Jens" uniqKey="Benninghoff J" first="Jens" last="Benninghoff">Jens Benninghoff</name></author><author><name sortKey="Jansen, Gerald H" sort="Jansen, Gerald H" uniqKey="Jansen G" first="Gerald H" last="Jansen">Gerald H. Jansen</name></author><author><name sortKey="Wlasich, Elisabeth" sort="Wlasich, Elisabeth" uniqKey="Wlasich E" first="Elisabeth" last="Wlasich">Elisabeth Wlasich</name></author><author><name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name></author><author><name sortKey="Drzezga, Alexander" sort="Drzezga, Alexander" uniqKey="Drzezga A" first="Alexander" last="Drzezga">Alexander Drzezga</name></author><author><name sortKey="Jansen, Nathalie L" sort="Jansen, Nathalie L" uniqKey="Jansen N" first="Nathalie L" last="Jansen">Nathalie L. Jansen</name></author><author><name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A" last="Kretzschmar">Hans A. Kretzschmar</name></author><author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name></author><author><name sortKey="Rujescu, Dan" sort="Rujescu, Dan" uniqKey="Rujescu D" first="Dan" last="Rujescu">Dan Rujescu</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25188</idno><idno type="RBID">pubmed:23436635</idno><idno type="pmid">23436635</idno><idno type="wicri:Area/PubMed/Corpus">000A22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.</title><author><name sortKey="Plate, Annika" sort="Plate, Annika" uniqKey="Plate A" first="Annika" last="Plate">Annika Plate</name><affiliation><nlm:affiliation>Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Benninghoff, Jens" sort="Benninghoff, Jens" uniqKey="Benninghoff J" first="Jens" last="Benninghoff">Jens Benninghoff</name></author><author><name sortKey="Jansen, Gerald H" sort="Jansen, Gerald H" uniqKey="Jansen G" first="Gerald H" last="Jansen">Gerald H. Jansen</name></author><author><name sortKey="Wlasich, Elisabeth" sort="Wlasich, Elisabeth" uniqKey="Wlasich E" first="Elisabeth" last="Wlasich">Elisabeth Wlasich</name></author><author><name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name></author><author><name sortKey="Drzezga, Alexander" sort="Drzezga, Alexander" uniqKey="Drzezga A" first="Alexander" last="Drzezga">Alexander Drzezga</name></author><author><name sortKey="Jansen, Nathalie L" sort="Jansen, Nathalie L" uniqKey="Jansen N" first="Nathalie L" last="Jansen">Nathalie L. Jansen</name></author><author><name sortKey="Kretzschmar, Hans A" sort="Kretzschmar, Hans A" uniqKey="Kretzschmar H" first="Hans A" last="Kretzschmar">Hans A. Kretzschmar</name></author><author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name></author><author><name sortKey="Rujescu, Dan" sort="Rujescu, Dan" uniqKey="Rujescu D" first="Dan" last="Rujescu">Dan Rujescu</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>14-3-3 Proteins (genetics)</term><term>Amyloid beta-Peptides (cerebrospinal fluid)</term><term>Antiparkinson Agents (therapeutic use)</term><term>Codon (genetics)</term><term>Dopamine Plasma Membrane Transport Proteins (genetics)</term><term>Female</term><term>Gerstmann-Straussler-Scheinker Disease (genetics)</term><term>Gerstmann-Straussler-Scheinker Disease (physiopathology)</term><term>Gerstmann-Straussler-Scheinker Disease (psychology)</term><term>Humans</term><term>Indoles (therapeutic use)</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Mutation (physiology)</term><term>Nerve Growth Factors (genetics)</term><term>Neuropsychological Tests</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson Disease (psychology)</term><term>Peptide Fragments (cerebrospinal fluid)</term><term>Phosphopyruvate Hydratase (genetics)</term><term>Polysomnography</term><term>Positron-Emission Tomography</term><term>Prions (genetics)</term><term>Receptors, Dopamine D2 (metabolism)</term><term>Receptors, Dopamine D3 (metabolism)</term><term>S100 Calcium Binding Protein beta Subunit</term><term>S100 Proteins (genetics)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="cerebrospinal fluid" xml:lang="en"><term>Amyloid beta-Peptides</term><term>Peptide Fragments</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>14-3-3 Proteins</term><term>Codon</term><term>Dopamine Plasma Membrane Transport Proteins</term><term>Nerve Growth Factors</term><term>Phosphopyruvate Hydratase</term><term>Prions</term><term>S100 Proteins</term><term>tau Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Receptors, Dopamine D2</term><term>Receptors, Dopamine D3</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Indoles</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gerstmann-Straussler-Scheinker Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Gerstmann-Straussler-Scheinker Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Gerstmann-Straussler-Scheinker Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Polysomnography</term><term>Positron-Emission Tomography</term><term>S100 Calcium Binding Protein beta Subunit</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23436635</PMID><DateCreated><Year>2013</Year><Month>02</Month><Day>25</Day></DateCreated><DateCompleted><Year>2013</Year><Month>08</Month><Day>06</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>2</Issue><PubDate><Year>2013</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.</ArticleTitle><Pagination><MedlinePgn>241-4</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25188</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.</AbstractText><AbstractText Label="METHODS/RESULTS" NlmCategory="RESULTS">We report a 51-year old female who presented with left-dominant parkinsonism and a positive DaTSCAN. She was diagnosed with idiopathic Parkinson's syndrome. Dopaminergic medication reduced her symptoms. In addition, punding-like behavior, deficits in organizing daily life and abnormal sleep behavior were reported. Neuropsychological testing, EEG, polysomnography as well as PET imaging with fluorodexyglucose (FDG), [F-18]-desmethoxyfallypride (DMFP), and [C-11]-6-OH-BTA-1 (PIB) were not diagnostic. Cerebral spinal fluid analysis revealed no 14-3-3 protein, but elevated neuron-specific enolase (NSE) and S100-beta and a very low phospho-tau/total-tau ratio. Analysis of the prion gene disclosed the rare D202N mutation.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The D202N prion mutation has been associated with GSS pathology and up to now was only reported post mortem. Our patient is the very first case diagnosed in vivo.</AbstractText><CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Plate</LastName><ForeName>Annika</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Benninghoff</LastName><ForeName>Jens</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Jansen</LastName><ForeName>Gerald H</ForeName><Initials>GH</Initials></Author><Author ValidYN="Y"><LastName>Wlasich</LastName><ForeName>Elisabeth</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Eigenbrod</LastName><ForeName>Sabina</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Drzezga</LastName><ForeName>Alexander</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Jansen</LastName><ForeName>Nathalie L</ForeName><Initials>NL</Initials></Author><Author ValidYN="Y"><LastName>Kretzschmar</LastName><ForeName>Hans A</ForeName><Initials>HA</Initials></Author><Author ValidYN="Y"><LastName>Bötzel</LastName><ForeName>Kai</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Rujescu</LastName><ForeName>Dan</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Danek</LastName><ForeName>Adrian</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D048948">14-3-3 Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016229">Amyloid beta-Peptides</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D003062">Codon</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050483">Dopamine Plasma Membrane Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007211">Indoles</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009414">Nerve Growth Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D010446">Peptide Fragments</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance 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UI="C046649">ropinirole</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 4.2.1.11</RegistryNumber><NameOfSubstance UI="D010751">Phosphopyruvate Hydratase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D048948">14-3-3 Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016229">Amyloid beta-Peptides</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000134">cerebrospinal fluid</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000978">Antiparkinson Agents</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003062">Codon</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050483">Dopamine Plasma Membrane Transport Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016098">Gerstmann-Straussler-Scheinker Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007211">Indoles</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle 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MajorTopicYN="N" UI="Q000134">cerebrospinal fluid</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010751">Phosphopyruvate Hydratase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017286">Polysomnography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049268">Positron-Emission Tomography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011328">Prions</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017448">Receptors, Dopamine D2</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050637">Receptors, Dopamine D3</DescriptorName><QualifierName MajorTopicYN="N" 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