| CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred. | |
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MedLine Citation:
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PMID: 16538621 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Marcelo Miranda; Martin Dichgans; Andrea Slachevsky; Francisco Urbina; Ismael Mena; Pablo Venegas; Marcelo Galvez |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 21 ISSN: 0885-3185 ISO Abbreviation: Mov. Disord. Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2006-08-28 Completed Date: 2006-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 1008-12 Citation Subset: IM |
Copyright Information:
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(c) 2006 Movement Disorder Society. |
Affiliation:
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Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile. marcelomiranda@terra.cl |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Biopsy Brain / pathology Brain Ischemia / diagnosis, genetics CADASIL / diagnosis, genetics* Cerebral Ventricles / pathology Chile DNA Mutational Analysis Dementia / diagnosis, 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, genetics* Microcirculation / pathology Microscopy, Electron, Transmission Neuropsychological Tests Pedigree Receptors, Notch / genetics* Skin / blood supply, pathology Temporal Lobe / pathology |
| Chemical | |
Reg. No./Substance:
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0/NOTCH3 protein, human; 0/Receptors, Notch |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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