ReviewCureus2026
PURA-Related Neurodevelopmental Disorder: A Comprehensive Clinical Review of Genetics, Phenotype, and Emerging Therapeutic Strategies.
Review in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PURA-related neurodevelopmental disorder (PURA-NDD) is an ultra-rare genetic condition caused by heterozygous pathogenic variants in the PURA gene, leading to haploinsufficiency of the Pur-α protein, a critical regulator of neuronal development and RNA trafficking. The disorder is characterized by neonatal hypotonia, global developmental delay, intellectual disability, severely impaired speech, epilepsy, feeding difficulties, respiratory dysfunction, and multisystem involvement. Clinical presentation is heterogeneous, with variability in seizure burden, motor milestones, autonomic dysfunction, endocrine abnormalities, and musculoskeletal complications such as scoliosis. Diagnosis relies on molecular confirmation through genome-wide sequencing, with early recognition enabling anticipatory guidance and multidisciplinary management. Current treatment remains supportive and symptom-directed, focusing on seizure control, nutritional support, respiratory care, rehabilitative therapies, and management of associated comorbidities. Evidence for targeted interventions, including ketogenic diet, vagus nerve stimulation, and neuromuscular junction-modulating agents, remains limited to case-based and small-cohort data. Emerging disease-modifying strategies, including adeno-associated virus-mediated gene replacement, antisense oligonucleotide approaches, RNA-targeted therapies, and drug repurposing, are under preclinical investigation. Advances in animal models, epigenetic profiling, and global patient registries are refining genotype-phenotype correlations and informing future clinical trial design. This comprehensive clinical review synthesizes current evidence on the genetics, pathophysiology, clinical spectrum, diagnostic evaluation, management strategies, and evolving therapeutic landscape of PURA-NDD, highlighting practical considerations for clinicians and priorities for translational research.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.