MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001C01

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

Identifieur interne : 001C01 ( PascalFrancis/Checkpoint ); précédent : 001C00; suivant : 001C02

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.

RBID : Pascal:06-0393865

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, CADASIL syndrome.

English descriptors

KwdEn :
- CADASIL syndrome, Dystonia, Nervous system diseases.

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.

Affiliations:

Allemagne, Chili

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Le document en format XML

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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.</div>
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	Movement Disorders (revue)
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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

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