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Updated: Jun 23, 2026
09:49
Isolation and Cannulation of Cerebral Parenchymal Arterioles
Published on: May 23, 2016
ALIGNED Network for rare cerebrovascular diseases: methodology and preliminary results
Carolina De Toma1, Antonella Potenza1,2, Nicola Rifino1
1Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Summary
Rare cerebrovascular diseases (rCVDs) are often underdiagnosed. The ALIGNED project established a network to improve diagnosis and care, revealing significant variability in management across Italy.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebrovascular diseases cause significant morbidity/mortality, with over 30% of strokes having undetermined origins.
- Rare cerebrovascular diseases (rCVDs) contribute to this burden but face underdiagnosis due to limited awareness and fragmented care.
- The ALIGNED project initiated a multidisciplinary network to address these diagnostic and care gaps in Italy.
Purpose of the Study:
- To improve the clinical and molecular characterization of rare cerebrovascular diseases (rCVDs).
- To assess the current level of care for rCVDs through surveys.
- To reduce geographical disparities in rCVD care via a virtual model.
Main Methods:
- Established a nationwide multidisciplinary network involving 49 centers.
- Collected a cohort of 308 patients with various rCVDs, including Moyamoya angiopathy (MMA).
- Conducted surveys to evaluate diagnostic/therapeutic pathway availability and performed preliminary transcriptomic/proteomic analyses on MMA samples.
Main Results:
- Identified 308 patients across 49 centers, with notable cohorts of CADASIL (162) and MMA (80).
- Survey data provided an overview of national capabilities in rCVD diagnosis and care.
- Transcriptomic and proteomic analyses of MMA revealed specific expression profiles related to angiogenesis.
Conclusions:
- Preliminary findings indicate substantial variability in rCVD management quality and diagnostic tool availability across Italy.
- Mapping Italian expertise is crucial for identifying gaps and improving resource allocation.
- Standardizing rCVD care is essential to ensure equitable patient access nationwide.
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