CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.
Identifieur interne : 001601 ( Ncbi/Checkpoint ); précédent : 001600; suivant : 001602CADASIL 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
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><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><wicri:noRegion>Santiago</wicri:noRegion></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></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><idno type="wicri:Area/PubMed/Checkpoint">002E41</idno><idno 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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><affiliations><list><country><li>Chili</li></country></list><tree><noCountry><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name><name sortKey="Galvez, Marcelo" sort="Galvez, Marcelo" uniqKey="Galvez M" first="Marcelo" last="Galvez">Marcelo Galvez</name><name sortKey="Mena, Ismael" sort="Mena, Ismael" uniqKey="Mena I" first="Ismael" last="Mena">Ismael Mena</name><name sortKey="Slachevsky, Andrea" sort="Slachevsky, Andrea" uniqKey="Slachevsky A" first="Andrea" last="Slachevsky">Andrea Slachevsky</name><name sortKey="Urbina, Francisco" sort="Urbina, Francisco" uniqKey="Urbina F" first="Francisco" last="Urbina">Francisco Urbina</name><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name></noCountry><country name="Chili"><noRegion><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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