The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome

Uyguner Z., Siva A., Kayserili H., Saip S., Altintas A., Apak M., ...Daha Fazla

JOURNAL OF THE NEUROLOGICAL SCIENCES, cilt.246, ss.123-130, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 246
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1016/j.jns.2006.02.021
  • Dergi Adı: JOURNAL OF THE NEUROLOGICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.123-130
  • İstanbul Üniversitesi Adresli: Evet

Özet

Mutations in Notch3 gene are responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a late onset neurological disorder recognized by recurrent strokes and dementia. We describe here the clinical and molecular findings of three unrelated Turkish families with CADASIL syndrome. Two of the families were identified to have the same mutation, p.R110C (c.C328T), located in exon 3 of the Notch3 gene. Interestingly, the phenotypic expression of the disease in these two families was markedly different in severity and age of onset implicating additional genetic and/or non-genetic modulating factors involved in the pathogenesis. In addition, we identified the novel p.C201R (c.T60IC) mutation in exon 4 of the Notch3 gene in a proband of the third family with two consecutive stroke-like episodes and typical MRI findings.