CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred.
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.
Miranda
Marcelo
M
Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile. marcelomiranda@terra.cl
Dichgans
Martin
M
Slachevsky
Andrea
A
Urbina
Francisco
F
Mena
Ismael
I
Venegas
Pablo
P
Galvez
Marcelo
M
D000328:Adult; D000368:Aged; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D002552:Cerebral Ventricles / Q000473:pathology; D002677:Chile; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D018450:Disease Progression; D004730:Endothelium, Vascular / Q000473:pathology; D005091:Exons; D005152:Facial Muscles; D005260:Female; D005500:Follow-Up Studies; D006179:Gyrus Cinguli / Q000473:pathology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D021621:Imaging, Three-Dimensional; D008297:Male; D008538:Meige Syndrome / Q000175:diagnosis / Q000235:genetics*; D008833:Microcirculation / Q000473:pathology; D046529:Microscopy, Electron, Transmission; D009483:Neuropsychological Tests; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D012867:Skin / Q000098:blood supply / Q000473:pathology; D013702:Temporal Lobe / Q000473:pathology
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch