Evidence map›Paper›PMID 42387837›Full record

SynthesisEuropean journal of neurology2026

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.

Fabiola Panvino, Roberto Paparella, Giorgia Urciuolo, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in European journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Fabiola PanvinoDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0009-0007-2683-0052
Roberto PaparellaDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0001-7020-1471
Giorgia UrciuoloDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Serena GalosiDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-4717-699X
Carlotta SpagnoliDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-1828-4035
Vincenzo LeuzziDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Francesco PisaniDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionAtaxia-telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease-modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT.

methodA systematic search was conducted across MEDLINE, Scopus, Web of Science, and ClinicalTrials.gov through December 2025. Eligible studies included randomized controlled trials (RCTs) and single-arm interventional studies evaluating pharmacological treatments for cerebellar ataxia in patients aged ≤ 18 years with genetically confirmed AT.

resultsThirteen studies (3 RCTs, 10 single-arm trials) involving 314 participants (mean age 10.87 years) were included. Interventions included betamethasone, erythrocyte-encapsulated dexamethasone (eDSP), nicotinamide riboside (NR), leucine derivatives, and amantadine. Betamethasone demonstrated transient improvements in the Scale for the Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale (ICARS) scores, with dose-dependent systemic toxicity. eDSP showed favorable tolerability but was ineffective in phase 3 trials, although subgroup analyses suggested a potential benefit in children aged 6-9 years. NR supplementation improved SARA and AT Neurological Examination Scale Toolkit (AT-NEST) scores in open-label studies. Leucine derivatives showed mixed results. Amantadine showed benefits in patients with extrapyramidal symptoms.

conclusionsThe recurrent pattern of promising open-label findings followed by negative phase 3 results highlights a translational gap attributable to methodological limitations, including small sample sizes, heterogeneous populations, and variable outcome measures. The non-linear disease progression and age-dependent treatment response further complicate trial design. Current evidence remains insufficient to guide clinical practice.

trial registrationPROSPERO number: CRD420251184721.

Indexed as

Ataxia TelangiectasiaCerebellar AtaxiaChildHumansataxia‐telangiectasiacerebellar ataxiapediatricpharmacological treatmentsystematic review

Identifiers

PMID42387837
PMCPMC13323561

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Registered trials

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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.