ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025
Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Biomolecules · 2026Review
- Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.Science China. Life sciences · 2026Article
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8 authors.
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Abstract
background and purposeNeuroimaging phenotypes remain poorly characterized in patients with deficiency of adenosine deaminase 2 (DADA2). We aimed to characterize cerebral microangiopathy patterns and establish diagnostic imaging biomarkers for DADA2.
methodsWe retrospectively analyzed consecutively enrolled DADA2 patients with neurological involvement from two ongoing prospective cohorts. The demographic, clinical, and neuroimaging data were evaluated, focusing on neuroimaging lesion patterns and cerebral small vessel disease (CSVD) imaging markers.
resultsThirteen patients were included, with 69.2% males. The median age at neurological onset was 17 (7-26) years. A striking disparity emerged between acute ischemic burden and chronic small vessel injury markers. During a follow-up of 51 (0.5-193) months,138 ischemic lesions were observed in all patients, primarily involving the pons (38 lesions), thalamus (21 lesions), internal capsule (20 lesions), and basal ganglia (18 lesions). Conversely, only one cerebral microbleed (CMB) was detected in all patients. Mild white matter hyperintensities (WMH) were observed in 9 patients. Infratentorial atrophy was prevailing and present in 69.2% (n = 9) patients. Additionally, hemorrhagic stroke was less frequent (n = 6, 46.2%) than infarction.
conclusionDADA2 exhibited a profoundly high risk of stroke recurrence, with substantial lesions being clinically asymptomatic, underscoring the importance of routine neuroimaging evaluation for DADA2 patients. This disease presents a unique CSVD phenotype characterized by brainstem-deep gray nucleus ischemic predominance and infratentorial atrophy yet paradoxically low burdens of CMBs and WMH compared to other CSVD. This distinctive imaging triad not only facilitates early recognition and timely intervention, but also suggests a pathophysiological divergence from other CSVD.
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