Article
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.
Brain : a journal of neurology - 1 Apr 2009
Tikka Saara, Mykkänen Kati, Ruchoux Marie-Magdeleine, Bergholm Robert, Junna Maija, Pöyhönen Minna, Yki-Järvinen Hannele, Joutel Anne, Viitanen Matti, Baumann Marc, Kalimo Hannu
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary subcortical vascular dementia. It is caused by mutations in NOTCH3 gene, which encodes a large transmembrane receptor Notch3. The key pathological finding is the accumulation of granular osmiophilic material (GOM), which contains extracellular domains of Notch3, on degenerating...
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