CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.
Identifieur interne : 002D30 ( PubMed/Curation ); précédent : 002D29; suivant : 002D31CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.
Auteurs : Marcelo Miranda [Chili] ; Martin Dichgans ; Andrea Slachevsky ; Francisco Urbina ; Ismael Mena ; Pablo Venegas ; Marcelo GalvezSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Chili.
English descriptors
- KwdEn :
- Adult, Aged, Biopsy, Brain (pathology), Brain Ischemia (diagnosis), Brain Ischemia (genetics), CADASIL (diagnosis), CADASIL (genetics), Cerebral Ventricles (pathology), Chile, DNA Mutational Analysis, Dementia (diagnosis), Dementia (genetics), Diagnosis, Differential, Diagnostic Imaging, Disease Progression, Endothelium, Vascular (pathology), Exons, Facial Muscles, Female, Follow-Up Studies, Gyrus Cinguli (pathology), Humans, Image Processing, Computer-Assisted, Imaging, Three-Dimensional, Male, Meige Syndrome (diagnosis), Meige Syndrome (genetics), Microcirculation (pathology), Microscopy, Electron, Transmission, Neuropsychological Tests, Pedigree, Receptors, Notch (genetics), Skin (blood supply), Skin (pathology), Temporal Lobe (pathology).
- MESH :
- chemical , genetics : Receptors, Notch.
- geographic : Chile.
- blood supply : Skin.
- diagnosis : Brain Ischemia, CADASIL, Dementia, Meige Syndrome.
- genetics : Brain Ischemia, CADASIL, Dementia, Meige Syndrome.
- pathology : Brain, Cerebral Ventricles, Endothelium, Vascular, Gyrus Cinguli, Microcirculation, Skin, Temporal Lobe.
- Adult, Aged, Biopsy, DNA Mutational Analysis, Diagnosis, Differential, Diagnostic Imaging, Disease Progression, Exons, Facial Muscles, Female, Follow-Up Studies, Humans, Image Processing, Computer-Assisted, Imaging, Three-Dimensional, Male, Microscopy, Electron, Transmission, Neuropsychological Tests, Pedigree.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease that usually begins with migraine, followed by repeated strokes and progressive dementia. We describe an unusual clinical presentation of this condition in members of a Chilean family with an established NOTCH3 mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia.
DOI: 10.1002/mds.20879
PubMed: 16538621
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Slachevsky</name></author><author><name sortKey="Urbina, Francisco" sort="Urbina, Francisco" uniqKey="Urbina F" first="Francisco" last="Urbina">Francisco Urbina</name></author><author><name sortKey="Mena, Ismael" sort="Mena, Ismael" uniqKey="Mena I" first="Ismael" last="Mena">Ismael Mena</name></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name></author><author><name sortKey="Galvez, Marcelo" sort="Galvez, Marcelo" uniqKey="Galvez M" first="Marcelo" last="Galvez">Marcelo Galvez</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20879</idno><idno type="RBID">pubmed:16538621</idno><idno type="pmid">16538621</idno><idno type="wicri:Area/PubMed/Corpus">002D30</idno><idno type="wicri:Area/PubMed/Curation">002D30</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.</title><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile. marcelomiranda@terra.cl</nlm:affiliation><country xml:lang="fr">Chili</country><wicri:regionArea>Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago</wicri:regionArea></affiliation></author><author><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name></author><author><name sortKey="Slachevsky, Andrea" sort="Slachevsky, Andrea" uniqKey="Slachevsky A" first="Andrea" last="Slachevsky">Andrea Slachevsky</name></author><author><name sortKey="Urbina, Francisco" sort="Urbina, Francisco" uniqKey="Urbina F" first="Francisco" last="Urbina">Francisco Urbina</name></author><author><name sortKey="Mena, Ismael" sort="Mena, Ismael" uniqKey="Mena I" first="Ismael" last="Mena">Ismael Mena</name></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name></author><author><name sortKey="Galvez, Marcelo" sort="Galvez, Marcelo" uniqKey="Galvez M" first="Marcelo" last="Galvez">Marcelo Galvez</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Biopsy</term><term>Brain (pathology)</term><term>Brain Ischemia (diagnosis)</term><term>Brain Ischemia (genetics)</term><term>CADASIL (diagnosis)</term><term>CADASIL (genetics)</term><term>Cerebral Ventricles (pathology)</term><term>Chile</term><term>DNA Mutational Analysis</term><term>Dementia (diagnosis)</term><term>Dementia (genetics)</term><term>Diagnosis, Differential</term><term>Diagnostic Imaging</term><term>Disease Progression</term><term>Endothelium, Vascular (pathology)</term><term>Exons</term><term>Facial Muscles</term><term>Female</term><term>Follow-Up Studies</term><term>Gyrus Cinguli (pathology)</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Imaging, Three-Dimensional</term><term>Male</term><term>Meige Syndrome (diagnosis)</term><term>Meige Syndrome (genetics)</term><term>Microcirculation (pathology)</term><term>Microscopy, Electron, Transmission</term><term>Neuropsychological Tests</term><term>Pedigree</term><term>Receptors, Notch (genetics)</term><term>Skin (blood supply)</term><term>Skin (pathology)</term><term>Temporal Lobe (pathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Notch</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Chile</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Skin</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Brain Ischemia</term><term>CADASIL</term><term>Dementia</term><term>Meige Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Ischemia</term><term>CADASIL</term><term>Dementia</term><term>Meige Syndrome</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Cerebral Ventricles</term><term>Endothelium, Vascular</term><term>Gyrus Cinguli</term><term>Microcirculation</term><term>Skin</term><term>Temporal Lobe</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Biopsy</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Diagnostic Imaging</term><term>Disease Progression</term><term>Exons</term><term>Facial Muscles</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Imaging, Three-Dimensional</term><term>Male</term><term>Microscopy, Electron, Transmission</term><term>Neuropsychological Tests</term><term>Pedigree</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Chili</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease that usually begins with migraine, followed by repeated strokes and progressive dementia. We describe an unusual clinical presentation of this condition in members of a Chilean family with an established NOTCH3 mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16538621</PMID><DateCreated><Year>2006</Year><Month>08</Month><Day>28</Day></DateCreated><DateCompleted><Year>2006</Year><Month>12</Month><Day>15</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>7</Issue><PubDate><Year>2006</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.</ArticleTitle><Pagination><MedlinePgn>1008-12</MedlinePgn></Pagination><Abstract><AbstractText>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease that usually begins with migraine, followed by repeated strokes and progressive dementia. We describe an unusual clinical presentation of this condition in members of a Chilean family with an established NOTCH3 mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Miranda</LastName><ForeName>Marcelo</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile. marcelomiranda@terra.cl</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dichgans</LastName><ForeName>Martin</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Slachevsky</LastName><ForeName>Andrea</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Urbina</LastName><ForeName>Francisco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Mena</LastName><ForeName>Ismael</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Venegas</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Galvez</LastName><ForeName>Marcelo</ForeName><Initials>M</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="C499374">NOTCH3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051880">Receptors, Notch</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" 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MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D002677">Chile</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003704">Dementia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003952">Diagnostic Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004730">Endothelium, Vascular</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005152">Facial Muscles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005500">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006179">Gyrus Cinguli</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007091">Image Processing, Computer-Assisted</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D021621">Imaging, Three-Dimensional</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008538">Meige Syndrome</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008833">Microcirculation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D046529">Microscopy, Electron, Transmission</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051880">Receptors, Notch</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012867">Skin</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000098">blood supply</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013702">Temporal Lobe</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>3</Month><Day>16</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>12</Month><Day>16</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>3</Month><Day>16</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId 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