Search Results - "CADASIL"

Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3 by Sassi, C., Nalls, M.A., Ridge, P.G., Gibbs, R., Lupton, M.K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K.S., Medway, C., Lord, J., Turton, J., Bras, J., Blumenau, S., Thielke, M., Josties, C., Freyer, D., Dietrich, A., Hammer, M., Baier, M., Dirnagl, U., Morgan, Kevin, Powell, J.F., Kauwe, J.S., Cruchaga, C., Goate, A.M., Singleton, A.B., Guerreiro, R., Hodges, Angela, Hardy, J.

“…Among these, Cerebral Autosomal Dominant and Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL and CARASIL), Cerebroretinal vasculopathy (CRV), Metachromatic leukodystrophy (MLD), Hereditary diffuse Leukoencephalopathy with spheroids (HDLS), Vanishing white matter disease (VWM) present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, respectively. …”
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