ArticleEuropean journal of neurology2024
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 7 citations in OpenAlex.
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Biomolecules · 2026Review
- Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature Review.Cureus · 2026Article
- Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Arterial and venous thrombosis in systemic and monogenic vasculitis.Nature reviews. Rheumatology · 2025Review
- In-depth analysis of the RNA editing landscape in intracranial aneurysms and its potential role in alternative splicing.Computational and structural biotechnology journal · 2025Article
- Rare primary vasculitis: update on multiple complex diseases and the new kids on the block.Advances in rheumatology (London, England) · 2024Review
- Human ADA2 Deficiency: Ten Years Later.Current allergy and asthma reports · 2024Review
- Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.European journal of neurology · 2024Article
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Authors and funding
16 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposePatients with adenosine deaminase 2 (ADA2) deficiency can present with various neurological manifestations due to vasculopathies and autoinflammation. These include ischaemic and hemorrhagic stroke, but less clearly defined neurological symptoms have also been reported.
methodsIn this cohort study, patients with confirmed ADA2 deficiency from seven university hospitals in the Netherlands were included. The frequency and recurrence rates of neurological manifestations before and after initiation of tumor necrosis factor α (TNF-α) inhibiting therapy were analyzed.
resultsTwenty-nine patients were included with a median age at presentation of 5 years (interquartile range 1-17). Neurological manifestations occurred in 19/29 (66%) patients and were the presenting symptom in 9/29 (31%) patients. Transient ischaemic attack (TIA)/ischaemic stroke occurred in 12/29 (41%) patients and was the presenting symptom in 8/29 (28%) patients. In total, 25 TIAs/ischaemic strokes occurred in 12 patients, one after initiation of TNF-α inhibiting therapy and one whilst switching between TNF-α inhibitors. None was large-vessel occlusion stroke. Two hemorrhagic strokes occurred: one aneurysmatic subarachnoid hemorrhage and one spontaneous intracerebral hemorrhage. Most neurological symptoms, including cranial nerve deficits, vertigo, ataxia and seizures, were caused by TIAs/ischaemic strokes and seldom recurred after initiation of TNF-α inhibiting therapy.
conclusionsNeurological manifestations, especially TIA/ischaemic stroke, are common in patients with ADA2 deficiency and frequently are the presenting symptom. Because it is a treatable cause of young stroke, for which antiplatelet and anticoagulant therapy are considered contraindicated, awareness amongst neurologists and pediatricians is important. Screening for ADA2 deficiency in young patients with small-vessel ischaemic stroke without an identified cause should be considered.
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