Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive …

B Zhao, T Luo, T Li, Y Li, J Zhang, Y Shan, X Wang… - Nature …, 2019 - nature.com
Volumetric variations of the human brain are heritable and are associated with many brain-
related complex traits. Here we performed genome-wide association studies (GWAS) of 101 …

Brain atrophy in cerebral small vessel diseases: extent, consequences, technical limitations and perspectives: the HARNESS initiative

F De Guio, M Duering, F Fazekas… - Journal of Cerebral …, 2020 - journals.sagepub.com
Brain atrophy is increasingly evaluated in cerebral small vessel diseases. We aim at
systematically reviewing the available data regarding its extent, correlates and cognitive …

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: lessons from neuroimaging

E Jouvent, M Duering, H Chabriat - Stroke, 2020 - Am Heart Assoc
1990s, CADASIL appeared as an invariably severe condition with 60% of patients dead,
demented, or bedridden at the age of 60 years. 12 By contrast, healthy elderly mutation …

Serum Neurofilament light correlates with CADASIL disease severity and survival

G Gravesteijn, JW Rutten, IMW Verberk… - Annals of clinical …, 2019 - Wiley Online Library
Objective To validate whether serum Neurofilament Light‐chain (NfL) levels correlate with
disease severity in CADASIL, and to determine whether serum NfL predicts disease …

Relationship between changes in resting-state spontaneous brain activity and cognitive impairment in patients with CADASIL

J Su, M Wang, S Ban, L Wang, X Cheng, F Hua… - The Journal of …, 2019 - Springer
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment. Cognitive …

Cognitive dysfunction and brain atrophy in Susac syndrome

S Machado, E Jouvent, I Klein, F De Guio… - Journal of …, 2020 - Springer
Background Susac syndrome is a very rare cerebral small vessel disease, which can leave
patients with cognitive impairment. We aimed at evaluating processing speed slowing …

Reduced resting-state brain functional network connectivity and poor regional homogeneity in patients with CADASIL

J Su, S Ban, M Wang, F Hua, L Wang, X Cheng… - The Journal of …, 2019 - Springer
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) manifests principally as a suite of cognitive impairments …

Altered regional brain homogeneity of BOLD signal in CADASIL: a resting state fMRI study

S Orsolini, C Marzi, G Gavazzi, A Bianchi… - Journal of …, 2021 - Wiley Online Library
ABSTRACT BACKGROUND AND PURPOSE The cognitive decline in cerebral autosomal
dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is …

Comparison of manual cross-sectional measurements and automatic volumetry of the corpus callosum, and their clinical impact: a study on type 1 diabetes and …

T Claesson, J Putaala, S Shams, E Salli… - Frontiers in …, 2020 - frontiersin.org
Background and purpose: Degenerative change of the corpus callosum might serve as a
clinically useful surrogate marker for net pathological cerebral impact of diabetes type 1. We …

[PDF][PDF] Preparing for CADASIL therapy

G Gravesteijn - 2020 - scholarlypublications …
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy) is the most prevalent hereditary small vessel disease. 1, 2 CADASIL …