Movement disturbances in the differential diagnosis of Creutzfeldt-Jakob disease.
Identifieur interne : 001F19 ( PubMed/Curation ); précédent : 001F18; suivant : 001F20Movement disturbances in the differential diagnosis of Creutzfeldt-Jakob disease.
Auteurs : Jan Edler [Allemagne] ; Brit Mollenhauer ; Uta Heinemann ; Daniela Varges ; Carola Werner ; Inga Zerr ; Walter J. Schulz-SchaefferSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Alzheimer Disease (diagnosis), Alzheimer Disease (epidemiology), Ataxia (diagnosis), Ataxia (epidemiology), Codon, Creutzfeldt-Jakob Syndrome (diagnosis), Creutzfeldt-Jakob Syndrome (epidemiology), Creutzfeldt-Jakob Syndrome (genetics), Diagnosis, Differential, Female, Humans, Hypokinesia (diagnosis), Hypokinesia (epidemiology), Male, Middle Aged, Movement Disorders (diagnosis), Movement Disorders (epidemiology), Movement Disorders (genetics), Muscle Rigidity (diagnosis), Muscle Rigidity (epidemiology), Phenotype, Polymorphism, Genetic, Prevalence, Prions (genetics).
- MESH :
- chemical , genetics : Prions.
- chemical : Codon.
- diagnosis : Alzheimer Disease, Ataxia, Creutzfeldt-Jakob Syndrome, Hypokinesia, Movement Disorders, Muscle Rigidity.
- epidemiology : Alzheimer Disease, Ataxia, Creutzfeldt-Jakob Syndrome, Hypokinesia, Movement Disorders, Muscle Rigidity.
- genetics : Creutzfeldt-Jakob Syndrome, Movement Disorders.
- Adult, Aged, Aged, 80 and over, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Phenotype, Polymorphism, Genetic, Prevalence.
Abstract
Movement disturbances are common in dementia disorders and are a central feature of the clinical classification criteria of Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 129 of the prion protein gene is known to determine the clinical picture of CJD. The frequency and characteristics of movement disturbances in other dementing disorders, such as Alzheimer's disease (AD), is barely known and leads to misdiagnoses. We investigated the occurrence and characteristics of movement disturbances in 143 patients neuropathologically confirmed with CJD (n = 100), AD (n = 29), dementia with Lewy bodies (DLB) (n = 7), or other diagnoses (n = 7). All patients had been referred with the differential diagnosis of prion disease. Ataxia and dysmetria were significantly more frequent in CJD than in AD or DLB patients, whereas hypokinesia was up to five times more frequent in AD or DLB (P < 0.05). Using an ordered logistic regression to identify constellations of movement disturbances, the diagnosis of CJD was likely in patients presenting ataxia but not hypokinesia. The reverse situation was statistically associated with AD. Ataxia and cogwheel rigidity were associated with valine-homozygosity and akinesia with methionine-homozygosity in the CJD patients. Our results indicate that the careful assessment of movement disturbances may be helpful in the differential diagnosis of Creutzfeldt-Jakob disease.
DOI: 10.1002/mds.22253
PubMed: 19053051
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Schulz-Schaeffer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22253</idno><idno type="RBID">pubmed:19053051</idno><idno type="pmid">19053051</idno><idno type="wicri:Area/PubMed/Corpus">001F19</idno><idno type="wicri:Area/PubMed/Curation">001F19</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Movement disturbances in the differential diagnosis of Creutzfeldt-Jakob disease.</title><author><name sortKey="Edler, Jan" sort="Edler, Jan" uniqKey="Edler J" first="Jan" last="Edler">Jan Edler</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropathology, University Medical Center, Göttingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropathology, University Medical Center, Göttingen</wicri:regionArea></affiliation></author><author><name sortKey="Mollenhauer, Brit" sort="Mollenhauer, Brit" uniqKey="Mollenhauer B" first="Brit" last="Mollenhauer">Brit Mollenhauer</name></author><author><name sortKey="Heinemann, Uta" sort="Heinemann, Uta" uniqKey="Heinemann U" first="Uta" last="Heinemann">Uta Heinemann</name></author><author><name sortKey="Varges, Daniela" sort="Varges, Daniela" uniqKey="Varges D" first="Daniela" last="Varges">Daniela Varges</name></author><author><name sortKey="Werner, Carola" sort="Werner, Carola" uniqKey="Werner C" first="Carola" last="Werner">Carola Werner</name></author><author><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name></author><author><name sortKey="Schulz Schaeffer, Walter J" sort="Schulz Schaeffer, Walter J" uniqKey="Schulz Schaeffer W" first="Walter J" last="Schulz-Schaeffer">Walter J. Schulz-Schaeffer</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alzheimer Disease (diagnosis)</term><term>Alzheimer Disease (epidemiology)</term><term>Ataxia (diagnosis)</term><term>Ataxia (epidemiology)</term><term>Codon</term><term>Creutzfeldt-Jakob Syndrome (diagnosis)</term><term>Creutzfeldt-Jakob Syndrome (epidemiology)</term><term>Creutzfeldt-Jakob Syndrome (genetics)</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Hypokinesia (diagnosis)</term><term>Hypokinesia (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (epidemiology)</term><term>Movement Disorders (genetics)</term><term>Muscle Rigidity (diagnosis)</term><term>Muscle Rigidity (epidemiology)</term><term>Phenotype</term><term>Polymorphism, Genetic</term><term>Prevalence</term><term>Prions (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Prions</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Alzheimer Disease</term><term>Ataxia</term><term>Creutzfeldt-Jakob Syndrome</term><term>Hypokinesia</term><term>Movement Disorders</term><term>Muscle Rigidity</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Alzheimer Disease</term><term>Ataxia</term><term>Creutzfeldt-Jakob Syndrome</term><term>Hypokinesia</term><term>Movement Disorders</term><term>Muscle Rigidity</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Creutzfeldt-Jakob Syndrome</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Polymorphism, Genetic</term><term>Prevalence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Movement disturbances are common in dementia disorders and are a central feature of the clinical classification criteria of Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 129 of the prion protein gene is known to determine the clinical picture of CJD. The frequency and characteristics of movement disturbances in other dementing disorders, such as Alzheimer's disease (AD), is barely known and leads to misdiagnoses. We investigated the occurrence and characteristics of movement disturbances in 143 patients neuropathologically confirmed with CJD (n = 100), AD (n = 29), dementia with Lewy bodies (DLB) (n = 7), or other diagnoses (n = 7). All patients had been referred with the differential diagnosis of prion disease. Ataxia and dysmetria were significantly more frequent in CJD than in AD or DLB patients, whereas hypokinesia was up to five times more frequent in AD or DLB (P < 0.05). Using an ordered logistic regression to identify constellations of movement disturbances, the diagnosis of CJD was likely in patients presenting ataxia but not hypokinesia. The reverse situation was statistically associated with AD. Ataxia and cogwheel rigidity were associated with valine-homozygosity and akinesia with methionine-homozygosity in the CJD patients. Our results indicate that the careful assessment of movement disturbances may be helpful in the differential diagnosis of Creutzfeldt-Jakob disease.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19053051</PMID><DateCreated><Year>2009</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>27</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>3</Issue><PubDate><Year>2009</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Movement disturbances in the differential diagnosis of Creutzfeldt-Jakob disease.</ArticleTitle><Pagination><MedlinePgn>350-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22253</ELocationID><Abstract><AbstractText>Movement disturbances are common in dementia disorders and are a central feature of the clinical classification criteria of Creutzfeldt-Jakob disease (CJD). Polymorphism at codon 129 of the prion protein gene is known to determine the clinical picture of CJD. The frequency and characteristics of movement disturbances in other dementing disorders, such as Alzheimer's disease (AD), is barely known and leads to misdiagnoses. We investigated the occurrence and characteristics of movement disturbances in 143 patients neuropathologically confirmed with CJD (n = 100), AD (n = 29), dementia with Lewy bodies (DLB) (n = 7), or other diagnoses (n = 7). All patients had been referred with the differential diagnosis of prion disease. Ataxia and dysmetria were significantly more frequent in CJD than in AD or DLB patients, whereas hypokinesia was up to five times more frequent in AD or DLB (P < 0.05). Using an ordered logistic regression to identify constellations of movement disturbances, the diagnosis of CJD was likely in patients presenting ataxia but not hypokinesia. The reverse situation was statistically associated with AD. Ataxia and cogwheel rigidity were associated with valine-homozygosity and akinesia with methionine-homozygosity in the CJD patients. Our results indicate that the careful assessment of movement disturbances may be helpful in the differential diagnosis of Creutzfeldt-Jakob disease.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Edler</LastName><ForeName>Jan</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neuropathology, University Medical Center, Göttingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mollenhauer</LastName><ForeName>Brit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Heinemann</LastName><ForeName>Uta</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Varges</LastName><ForeName>Daniela</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Werner</LastName><ForeName>Carola</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Zerr</LastName><ForeName>Inga</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Schulz-Schaeffer</LastName><ForeName>Walter J</ForeName><Initials>WJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</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="D003062">Codon</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C512656">PRNP protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011328">Prions</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Nat Rev Neurol. 2009 Apr;5(4):185-6</RefSource><PMID Version="1">19347022</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000544">Alzheimer Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003062">Codon</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007562">Creutzfeldt-Jakob Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018476">Hypokinesia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009127">Muscle Rigidity</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015995">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011328">Prions</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>12</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>12</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId 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