Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment. Cognitive deficits in patients with CADASIL are correlated with structural brain changes such as lacunar lesion burden, normalized brain volume, and anterior thalamic radiation lesions, but changes in resting-state functional brain activity in patients with CADASIL have not been reported.
Methods: This study used resting-state functional magnetic resonance imaging (fMRI) to measure the amplitude of low-frequency fluctuation (ALFF) in 22 patients with CADASIL and 44 healthy matched controls. A seed-based functional connectivity (FC) analysis was used to investigate whether the dysfunctional areas identified by ALFF analysis exhibited abnormal FC with other brain areas. Pearson's correlation analysis was used to detect correlations between the ALFF z-score of abnormal brain areas and clinical scores in patients with CADASIL.
Results: Patients with CADASIL exhibited significantly lower ALFF values in the right precuneus and cuneus (Pcu/CU) and higher ALFF values in the bilateral superior frontal gyrus (SFG) and left cerebellar anterior and posterior lobes compared with controls. Patients with CADASIL showed weaker FC between the areas with abnormal ALFF (using peaks in the left and right SFG and the right Pcu/CU) and other brain areas. Importantly, the ALFF z-scores for the left and right SFG were negatively associated with cognitive performance, including Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment scores (MoCA), respectively, whereas those of the right Pcu/CU were positively correlated with the MMSE score.
Conclusions: This preliminary study provides evidence for changes in ALFF of the right Pcu/CU, bilateral SFG and left cerebellar anterior and posterior lobes, and associations between ALFF values for abnormal brain areas and cognitive performance in patients with CADASIL. Therefore, spontaneous brain activity may be a novel imaging biomarker of cognitive impairment in this population.
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http://dx.doi.org/10.1186/s10194-019-0982-3 | DOI Listing |
Neurology
January 2025
From the ARAMIS (S.K., S.T.D.M.), Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Groupe Hospitalier Sorbonne Université; Centre de référence pour les maladies vasculaires rares du cerveau et de l'œil (CERVCO) and Centre Neurovascular Translationnel (CNVT) (D.H., A.J., S.R., C.M., S.G., A.T., F.F., H.C.), AP-HP, Paris; and INSERM U1141 - FHU NeuroVasc (D.H., S.G., H.C.), Université Paris Cité, France.
Background And Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent small artery brain disease caused by pathogenic variants of the NOTCH3 gene. During the disease, we still do not know how the various deficits progress and develop with each other at different stages of the disease. We aim to model disease progression and identify possible progressive subgroups and the effects of different covariates on clinical worsening.
View Article and Find Full Text PDFNeurol Sci
December 2024
UOSD Centro Demenze, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy.
Introduction: The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
View Article and Find Full Text PDFCureus
November 2024
Health Science, Fukui Health Science University, Fukui, JPN.
This report describes the case of a 48-year-old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who also presented with aortic dissection. The patient had a history of hypertension, diabetes mellitus, dyslipidemia, and mild renal failure but had not received any treatment. He developed back pain and was diagnosed with type A aortic dissection via contrast-enhanced chest computed tomography (CT).
View Article and Find Full Text PDFJAMA Neurol
November 2024
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Neurologist
November 2024
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology.
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease with slow natural progression. Ischemic stroke and cognitive impairment are its most common clinical symptoms. Here, we report a rare 50-year-old woman who had rapid disease progression with c.
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