Publications by authors named "N Rifino"
Article Synopsis
- NOTCH3cys variants are common and linked to various small vessel diseases, including early-onset stroke and dementia, but there is no comprehensive staging system to assess their severity.
- A cohort study created and validated a simple staging system for NOTCH3-SVD by analyzing data from several international cohorts and the UK Biobank, focusing on the impact of these variants on CVD outcomes and cognition.
- The new system includes 9 disease stages, aiding in understanding the relationship between stages and clinical outcomes like ischemic strokes, cognitive function, and brain damage.
Despite the progress made in understanding the management and outcomes of Moyamoya angiopathy (MMA), several aspects of the disease remain largely unknown. In particular, evidence on the disease history and management of MMA is lacking, mainly due to methodological and selection biases in the available studies and the lack of large, randomized prospective studies. Therefore, the care of MMA patients remains limited to a few expert centers worldwide, and management is often based on local expertise and available resources.
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- A new subset of cerebral amyloid angiopathy (CAA) patients, termed iatrogenic CAA (iCAA), is characterized by early onset and is believed to be caused by medical factors, differing from sporadic CAA (sCAA).
- The study involved analyzing cerebrospinal fluid (CSF) and plasma levels of β-Amyloid and tau proteins in patients diagnosed with either iCAA or sCAA in a clinical setting across two research centers.
- Results indicated that patients with sCAA had more cognitive impairments and cardiovascular risks compared to iCAA patients, but levels of key biomarkers (Aβ40, Aβ42, total tau) in both CSF and plasma were similar between the two groups.
Objectives: Cerebral amyloid angiopathy (CAA)-related features on neuroimaging often coexist with signs of arteriolosclerosis-small vessel disease on neuroimaging in people with intracranial hemorrhage (ICH). This study aimed at defining the value of amyloid pathology detected by flutemetamol PET in reclassification and stratification of risk of bleeding in people with mixed CAA-arteriolosclerosis features.
Methods: We included consecutive patients admitted to 2 institutions (2018-2023) with spontaneous symptomatic ICH, subarachnoid hemorrhage (SAH), transient focal neurologic episodes (TFNE), or cognitive impairment and MRI showing CAA hallmarks.
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 is frequent. In recent decades, it has become evident that, besides cerebrovascular damage, a pure neuronal phenotype of AFD exists in the central nervous system, which is supported by clinical, pathological, and neuroimaging data.
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