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CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred
Marcelo Miranda1, Martin Dichgans, Andrea Slachevsky
1Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile. marcelomiranda@terra.cl
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can present unusually. This hereditary vascular disease should be considered in patients with secondary dystonia.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease.
- It typically manifests as migraine, recurrent strokes, and progressive dementia.
- A NOTCH3 gene mutation is established in affected individuals.
Observation:
- An unusual clinical presentation of CADASIL was observed in a Chilean family.
- Two patients presented with facial dystonia.
- One patient showed abnormal neuroimaging and transcranial ultrasound findings despite a normal brain MRI.
Findings:
- Early clinical, neuropsychological, transcranial ultrasound, MRI, cerebral blood flow, and skin biopsy data were collected.
- Facial dystonia was a key presenting symptom in two individuals.
- Abnormalities were detected in single-photon emission computed tomography and transcranial ultrasound in one patient post-normal MRI.
Implications:
- This case highlights the importance of considering CADASIL in the differential diagnosis of secondary dystonia.
- Early identification of CADASIL can aid in patient management and genetic counseling.
- The study expands the understanding of CADASIL's diverse clinical spectrum.
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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