Article
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.
Neurobiology of aging - 1 Mar 2023
Foddis Marco, Blumenau Sonja, Holtgrewe Manuel, Paquette Kimberly, Westra Kaitlyn, Alonso Isabel, Macario Maria do Carmo, Morgadinho Ana Sofia, Velon Ana Graça, Santo Gustavo, Santana Isabel, Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Pöyhönen Minna, Myllykangas Liisa, Pavlovic Aleksandra, Kostic Vladimir, Dobricic Valerija, Lohmann Ebba, Hanagasi Hasmet, Santos Mariana, Guven Gamze, Bilgic Basar, Bras Jose, Beule Dieter, Dirnagl Ulrich, Guerreiro Rita, Sassi Celeste
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral small vessel disease and share clinical, and, to different extents, neuroradiological and neuropathological features. However, whether CADASIL and RVCL-S...
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