MovDisordV3, Main, Exploration, bibRecord, 003552

CADASIL presenting with a movement disorder: A clinical study of a Chilean kindred

Identifieur interne : 003552 ( Main/Exploration ); précédent : 003551; suivant : 003553

CADASIL presenting with a movement disorder: A clinical study of a Chilean kindred

Auteurs : Marcelo Miranda [Chili] ; Martin Dichgans [Allemagne] ; Andrea Slachevsky [Chili] ; Francisco Urbina [Chili] ; Ismael Mena [Chili] ; Pablo Venegas [Chili] ; Marcelo Galvez [Chili]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-07.

RBID : ISTEX:5D086246B5E4FE933A944887FA63E07AF4170591

Descripteurs français

Pascal (Inist)
- CADASIL syndrome, Dystonie, Système nerveux pathologie.
Wicri :
- geographic : Chili.

English descriptors

KwdEn :
- Adult, Aged, Biopsy, Brain (pathology), Brain Ischemia (diagnosis), Brain Ischemia (genetics), CADASIL, CADASIL (diagnosis), CADASIL (genetics), CADASIL syndrome, Cerebral Ventricles (pathology), Chile, DNA Mutational Analysis, Dementia (diagnosis), Dementia (genetics), Diagnosis, Differential, Diagnostic Imaging, Disease Progression, Dystonia, 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, Nervous system diseases, Neuropsychological Tests, Pedigree, Receptors, Notch (genetics), Skin (blood supply), Skin (pathology), Temporal Lobe (pathology), atypical presentation, dystonia, movement disorders.
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. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/5D086246B5E4FE933A944887FA63E07AF4170591/fulltext/pdf

DOI: 10.1002/mds.20879

Affiliations:

Allemagne, Chili

Le document en format XML

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<term>Aged</term>
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<term>Brain Ischemia (diagnosis)</term>
<term>Brain Ischemia (genetics)</term>
<term>CADASIL</term>
<term>CADASIL (diagnosis)</term>
<term>CADASIL (genetics)</term>
<term>CADASIL syndrome</term>
<term>Cerebral Ventricles (pathology)</term>
<term>Chile</term>
<term>DNA Mutational Analysis</term>
<term>Dementia (diagnosis)</term>
<term>Dementia (genetics)</term>
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<term>Exons</term>
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<term>Female</term>
<term>Follow-Up Studies</term>
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<term>Humans</term>
<term>Image Processing, Computer-Assisted</term>
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<term>atypical presentation</term>
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<term>CADASIL</term>
<term>Dementia</term>
<term>Meige Syndrome</term>
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<term>CADASIL</term>
<term>Dementia</term>
<term>Meige Syndrome</term>
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<term>Cerebral Ventricles</term>
<term>Endothelium, Vascular</term>
<term>Gyrus Cinguli</term>
<term>Microcirculation</term>
<term>Skin</term>
<term>Temporal Lobe</term>
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<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>
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<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. © 2006 Movement Disorder Society</div>
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<tree><country name="Chili"><noRegion><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name>
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<name sortKey="Slachevsky, Andrea" sort="Slachevsky, Andrea" uniqKey="Slachevsky A" first="Andrea" last="Slachevsky">Andrea Slachevsky</name>
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Movement Disorders (revue)

CADASIL presenting with a movement disorder: A clinical study of a Chilean kindred

CADASIL presenting with a movement disorder: A clinical study of a Chilean kindred

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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