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(cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)
36 results
  • A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1. [Case Reports]
    J Stroke Cerebrovasc Dis 2018; 27(10):2840-2842Xie F, Zhang LS
  • Our objective is to reported a Chinese CARASIL patient caused by novel compound heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were conducted in proband and her available family members. Sanger sequencing of NOTCH3 and HTRA1 was used to investigate causative mutations. The patient was born in an outbred family. She experienced recurrent transient ischemic attacks,…
  • A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review. [Case Reports]
    Cerebrovasc Dis 2017; 44(3-4):135-140Ibrahimi M, Nozaki H, … El-Ghanem M
  • CONCLUSIONS: 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.
  • New insights into mechanisms of small vessel disease stroke from genetics. [Review]
    Clin Sci (Lond) 2017; 131(7):515-531Tan R, Traylor M, … Markus H
  • Cerebral small vessel disease (SVD) is a common cause of lacunar strokes, vascular cognitive impairment (VCI) and vascular dementia. SVD is thought to result in reduced cerebral blood flow, impaired cerebral autoregulation and increased blood-brain barrier (BBB) permeability. However, the molecular mechanisms underlying SVD are incompletely understood. Recent studies in monogenic forms of SVD, su…
  • Hereditary cerebral small vessel disease and stroke. [Review]
    Clin Neurol Neurosurg 2017; 155:45-57Søndergaard CB, Nielsen JE, … Christensen H
  • Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patien…
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