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31 results

  1. NOTCH3-Related Lateral Meningocele Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368476
    ... Disorders View in own window Disorder MOI Comment CADASIL AD NOTCH3 pathogenic variants are detected in exons 2-24 in persons w/CADASIL. The majority of sequence alterations are missense variants, ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Finnish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535151
    ... A -- ~15%-20% AD NM_000249 ​.4 NOTCH3 CADASIL AD c.397C>T p.Arg133Cys 86% 1/ ... M. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet. 2004;12:813– ...
  3. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... variants POLG -related disorders [ Pareyson et al 2013 ] CADASIL [ Sicurelli et al 2005 ]; however, peripheral neuropathy has ... M, Bianchi S, Federico A. Peripheral neuropathy in CADASIL. J Neurol. 2005;252:1206-9. [ PubMed : 15827866 ] ...
  4. Literature search strategies - Hearing loss in adults - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536546
    ... lewy body disease/ 10. (alzheim* or biswanger* or cadasil or cerad or dement*).ti,ab. 11. (ftld ... amnestic cognitive disorders/ 11. (alzheim* or biswanger* or cadasil or cerad or dement*).ti,ab. 12. (ftld ...
  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 ... autosomal dominant ; ANAs = antinuclear antibodies; AR = autosomal recessive ; CADASIL = cerebral autosomal dominant arteriopathy with subcortical infarcts and ...
  6. CSF1R-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100239
    ... or temporal atrophy w/far fewer WML NOTCH3 CADASIL AD Frontal lobe syndrome WML Stroke-like clinical ... less pronounced. AD = autosomal dominant ; AR = autosomal recessive ; CADASIL = c erebral a utosomal d ominant a rteriopathy ...
  7. Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1258
    ... even at an early stage of the disease. CADASIL NOTCH3 AD Consider these disorders in those w/ ... of nomenclature. 1. Genes are in alphabetic order. References Literature Cited Alamri H, Al Mutairi F, Alothman ...
  8. Alexander Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1172
    ... Cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy (CADASIL) AD Mild cognitive decline Ischemic stroke & migraine w/ ... posted live 24 April 2002 (jrg) Original submission References Literature Cited Ayaki T, Shinohara M, Tatsumi S, ...
  9. Alzheimer Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1161
    ... Lewy body disease (LBD), Creutzfeldt-Jakob disease, and CADASIL [ Loy et al 2014 , Ferrari et al 2018 ]. ... Overview posted live Spring 1996 (tb) Original submission References Literature Cited Bird TD, Miller BL. Alzheimer's ...
  10. GBE1 Adult Polyglucosan Body Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5300
    ... lateral sclerosis , cerebral small vessel disease (e.g., CADASIL , HTRA1 disorder, and COL4A1 and COL4A2 -related small ... posted live 1 October 2008 (ck) Original submission References Literature Cited Akman HO, Kakhlon O, Coku J, ...
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