Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey.

Ince B., BENBİR ŞENEL G., SİVA A., SAİP S., Utku U., ÇELİK Y., ...Daha Fazla

European neurology, cilt.72, ss.125-31, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 72
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1159/000360530
  • Dergi Adı: European neurology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.125-31
  • Anahtar Kelimeler: CADASIL, NOTCH3-negative patients, Radiological features, AUTOSOMAL-DOMINANT ARTERIOPATHY, NOTCH3 GENE-MUTATIONS, SUBCORTICAL INFARCTS, SELECT PATIENTS, SCREENING TOOL, LEUKOENCEPHALOPATHY, PATTERNS, FAMILIES, SPECTRUM, STROKE
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: The diversity of clinical presentation and neuroimaging findings of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) from different regions of the world has not yet been studied in depth. Here we investigated the variability of clinical, radiological and genetic data of 48 patients analyzed for NOTCH3 mutation in Turkey.