Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.
Hiroyuki IshiyamaHyunjin KimSatoshi SaitoSoichi TakedaMisa TakegamiYumi YamamotoSoichiro AbeShinsaku NakazawaTomotaka TanakaKazuo WashidaYoshiaki MoritaSeung-Taek OhHee-Jae JungJay Chol ChoiYuriko NakaokuJin NakaharaMasatoshi KogaKazunori ToyodaKisaki AmemiyaYoshihiko IkedaKinta HatakeyamaIkuko MizutaToshiki MizunoKwang-Kuk KimMasafumi IharaPublished in: Annals of neurology (2024)
NOTCH3 p.R75P mutation is associated with hemorrhagic presentations, milder temporopolar lesions, and distinct mutant protein structure properties. ANN NEUROL 2024;95:1040-1054.