CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.
Mov Disord
; 21(7): 1008-12, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16538621
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
CADASIL
/
Receptores Notch
/
Síndrome de Meige
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
País/Região como assunto:
America do sul
/
Chile
Idioma:
En
Revista:
Mov Disord
Ano de publicação:
2006
Tipo de documento:
Article