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  1. CADASIL - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1500
    ... experienced (neuro)pathologist, usually allows for a conclusive CADASIL diagnosis [ Rutten et al 2014 ]. Clinical Characteristics Clinical Description ... Approximately 70% of European individuals with a clinical CADASIL diagnosis have a pathogenic variant in one of the ...
  2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MedlinePlus Genetics 
    https://medlineplus.gov/...cortical-infarcts-and-leukoencephalopathy
    ... MRI). The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as ... vessel damage that can cause the signs and symptoms of CADASIL. Learn more about the gene associated with Cerebral ...
  3. NOTCH3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/notch3
    ... to cause recurrent strokes and other signs and symptoms of CADASIL. More About This Health Condition Lateral meningocele syndrome ... Oberstein SA. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014 Jun;14(5): ...
  4. Excluded studies - Dementia - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536486
    ... Morroni (2013) Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients Not a ... randomised double-blind trial in CADASIL Population had CADASIL and MCI not a formal dementia diagnosis Diehl-Schmid (2008) A 6-month, open-label ...
  5. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546576
    ... Overlapping w/RVCL-S Distinguishing from RVCL-S CADASIL NOTCH3 AD Focal neurologic symptoms Progressive cognitive decline Migraine Mood disturbances Apathy White ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... p >The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as ...
  7. References - Dementia - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536508
    ... de Yebenes, and Justo Garcia (2009) On the diagnosis of CADASIL. Journal of Alzheimer’s disease: JAD 17(4), ...
  8. Familial Hemiplegic Migraine - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1388
    ... impairment, peripheral neuropathy, learning disability, & short stature NOTCH3 CADASIL AD Migraine may be 1st symptom; occurs in 30%-75% of persons, w/1st ...
  9. HTRA1 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK32533
    ... to smooth muscle cells, a pathologic hallmark for CADASIL, is never observed in CARASIL. HTRA1 Disorder Caused by a Heterozygous Pathogenic Variant ( HTRA1 Cerebral Small Vessel Disease) Neurologic symptoms typically begin after age 40 years [ Nozaki et ...
  10. NOTCH3-Related Lateral Meningocele Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368476
    ... family w/9 affected persons. AD = autosomal dominant; CADASIL = c erebral a utosomal d ominant a rteriopathy w/ s ubcortical i nfarcts & l eukoencephalopathy; MOI = mode of inheritance Differential Diagnosis The differential diagnosis for NOTCH3 -related lateral meningocele ...
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