Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical …

I Di Donato, S Bianchi, N De Stefano, M Dichgans… - BMC medicine, 2017 - Springer
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is the most common and best known monogenic small …

Expanding the Neurological Phenotype of Anderson–Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with …

M Zedde, I Romani, A Scaravilli, S Cocozza, L Trojano… - Cells, 2024 - mdpi.com
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire
body. Among its manifestation, the involvement of the central and peripheral nervous system …

Early segmental white matter fascicle microstructural damage predicts the corresponding cognitive domain impairment in cerebral small vessel disease patients by …

L Huang, X Chen, W Sun, H Chen, Q Ye… - Frontiers in aging …, 2021 - frontiersin.org
Objective: To characterize earlier damage pattern of white matter (WM) microstructure in
cerebral small vessel disease (CSVD) and its relationship with cognitive domain …

Diffusion tensor imaging of the brain in Pompe disease

JJA van den Dorpel, MHG Dremmen… - Journal of …, 2023 - Springer
Enzyme replacement therapy has drastically changed prospects of patients with Pompe
disease, a progressive metabolic myopathy. As classic infantile patients survive due to …

Altered brain glucose metabolism assessed by 18F-FDG PET imaging is associated with the cognitive impairment of CADASIL

J Su, Q Huang, S Ren, F Xie, Y Zhai, Y Guan, J Liu… - Neuroscience, 2019 - Elsevier
Recurrent stroke and cognitive impairment are the primary features of patients with cerebral
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy …

[HTML][HTML] Cerebrospinal fluid biomarkers of neurofibrillary tangles and synaptic dysfunction are associated with longitudinal decline in white matter connectivity: a multi …

WH Kim, AM Racine, N Adluru, SJ Hwang… - NeuroImage: Clinical, 2019 - Elsevier
In addition to the development of beta amyloid plaques and neurofibrillary tangles,
Alzheimer's disease (AD) involves the loss of connecting structures including degeneration …

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 …

Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis

C Vinciguerra, A Giorgio, J Zhang, I Di Donato… - Multiple sclerosis and …, 2019 - Elsevier
Background Peak width of skeletonized mean diffusivity (PSMD) is a novel and fully
automated, MRI biomarker, which has shown clinical relevance in cerebral small vessel …

Microstructural changes of normal-appearing white matter in Vascular Parkinsonism

M Salsone, ME Caligiuri, V Vescio, G Arabia… - Parkinsonism & Related …, 2019 - Elsevier
Objective Several evidences demonstrated the role of white matter (WM) lesions in the
pathogenesis of Vascular Parkinsonism (VP), a clinical entity characterized by parkinsonism …

Diffusion tensor tractography in cerebral small vessel disease: correlation with cognitive function

MM D'Souza, SP Gorthi, K Vadwala… - The …, 2018 - journals.sagepub.com
Background Patients with cerebral small vessel disease may suffer from varying levels of
cognitive deficit and may progress on to vascular dementia. The extent of involvement, as …