A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review
Conclusion: We discovered a novel missense mutation (c.616G>A) associated with a phenotype of CARASIL. This is the first genetically backed case of CARASIL in the new world. The patient's craniofacial abnormalities, including asymmetry of the head, may be related to impaired modulation of transforming growth factor- β1, the result of loss of proteolytic activity of HTRA1. External capsules remained unaffected, despite findings of advanced changes in the rest of the cerebral white matter. Literature is briefly reviewed. The patient's history, neurological exam, neuroimaging, and genetic testing are included.Cerebrovasc Dis 2017;44:135-140
Source: Cerebrovascular Diseases - Category: Neurology Source Type: research