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- Title
Chorea Associated with Notch3 Gene Mutation.
- Authors
Salari, Mehri; Rezaei, Kamran; Rashedi, Ronak; Etemadifar, Masoud
- Abstract
This article discusses a case of chorea, a movement disorder, associated with a mutation in the Notch3 gene. The patient, a 70-year-old male of Balouch descent, presented with involuntary leg movements and mild to moderate episodes of headache. He also experienced memory impairment and involuntary movements in his distal lower limbs, which progressed to his upper limbs and perioral area. Genetic testing revealed a pathogenic variant in the Notch3 gene, confirming the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Treatment with tetrabenazine and donepezil improved the patient's choreiform movements and memory impairment. The article suggests that chorea can be a rare manifestation of CADASIL and should be considered in the differential diagnosis of chorea.
- Subjects
MOVEMENT disorders; SINGLE-photon emission computed tomography; CHOREA; GENETIC mutation
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 7, p902
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.14053