Abstract
Background and Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy caused by mutations in the NOTCH3 gene is a hereditary cerebral small vessel disease, manifesting with stroke, cognitive impairment, and mood disturbances. Functional or structural changes in the default mode network (DMN), which plays important role in cognitive and mental maintenance, have been found in several neurological and mental diseases. However, it remains unclear whether DMN is altered in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Methods: Multimodal imaging methods, including MRI and positron emission tomography (PET), were applied to evaluate the functional, structural, and metabolic characteristics of DMN in 25 patients with CADASIL and 42 healthy controls.Results: Compared with controls, patients with CADASIL had decreased nodal efficiency and degree centrality of the dorsal medial pre-frontal cortex and hippocampal formation within DMN. Structural MRI and diffusion tensor imaging (DTI) showed decreased gray matter volume and fiber tracks presented in the bilateral hippocampal formation. Meanwhile, PET imaging showed decreased metabolism within the whole DMN in CADASIL. Furthermore, correlation analyses showed that these nodal characteristics, gray matter volume, and metabolic signals of DMN were related to cognitive scores in CADASIL.Conclusions: Our results suggested that altered network characteristics of DMN might play important roles in cognitive deficits of CADASIL.
Highlights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common hereditary cerebrovascular disease [1]
Structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) showed decreased gray matter volume and fiber tracks presented in the bilateral hippocampal formation
Correlation analyses showed that these nodal characteristics, gray matter volume, and metabolic signals of default mode network (DMN) were related to cognitive scores in CADASIL
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common hereditary cerebrovascular disease [1] It is caused by the pathogenic mutations in the NOTCH3 gene on chromosome 19 and, shows familial inheritance. The typical clinical manifestations of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are migraine with aura, stroke, mood disturbances, and progressive cognitive impairments, including deficits in executive function, processing speed, attention, and memory [2]. Functional or structural changes in the default mode network (DMN), which plays important role in cognitive and mental maintenance, have been found in several neurological and mental diseases It remains unclear whether DMN is altered in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
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