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Background and purpose <p>Neuroimaging 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.</p> Methods <p>We 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.</p> Results <p>Thirteen 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.</p> Conclusion <p>DADA2 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.</p>

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Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月19日

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  • Yaping Zhou,
  • Min Shen,
  • Nan Jiang,
  • Hanhui Fu,
  • Fei Han,
  • Yi-Cheng Zhu,
  • Ming Yao,
  • Jun Ni

摘要

Background and purpose

Neuroimaging 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.

Methods

We 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.

Results

Thirteen 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.

Conclusion

DADA2 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.