title: CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.
authors.affiliation: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Nakamura
authors.forename: Hirohisa
authors.initials: H
authors.lastname: Watanabe
authors.forename: Masaaki
authors.initials: M
authors.lastname: Hirayama
authors.forename: Akira
authors.initials: A
authors.lastname: Inukai
authors.forename: Hidehiro
authors.initials: H
authors.lastname: Kabasawa
authors.forename: Michitaka
authors.initials: M
authors.lastname: Matsubara
authors.forename: Shigehisa
authors.initials: S
authors.lastname: Mitake
authors.forename: Masaaki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchino
authors.forename: Gen
authors.initials: G
authors.lastname: Sobue
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D046589:CADASIL / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003702:Delusions / Q000235:genetics / Q000523:psychology; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006212:Hallucinations / Q000235:genetics* / Q000523:psychology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics / Q000523:psychology; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D004247:DNA