title: Novel mutation of the NOTCH3 gene in a Polish family with CADASIL.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic. Both family members had epilepsy, coronary artery disease, and abdominal aorta aneurysm. Our observation confirms there is phenotypic variability in CADASIL not only between, but also within, families carrying the same mutation.
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: jbuczek@ipin.edu.pl.
authors.forename: Julia
authors.initials: J
authors.lastname: Buczek
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Błażejewska-Hyżorek
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Cudna
authors.affiliation: Department of Radiology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Lusawa
authors.affiliation: Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Eliza
authors.initials: E
authors.lastname: Lewandowska
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Kurkowska-Jastrzębska
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
mesh_terms: D000369:Aged, 80 and over; D046589:CADASIL / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D011044:Poland; D000071656:Receptor, Notch3 / Q000235:genetics*
chemical_list: D000071656:Receptor, Notch3
keywords: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; NOTCH3; Novel mutation; Phenotypic variability