Evidence map›Paper›PMID 41596528›Full record

ReviewInternational journal of molecular sciences2026

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

Eugenio Bernardi, Óscar López-Lombardía, Gonzalo Olmedo-Saura, Javier Pagonabarraga, Jaime Kulisevsky, Jesús Pérez-Pérez

Abstract readScoping ReviewReview
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–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

4 citing papers in PubMed.

  1. Review
  2. Walking as a Window to the Brain: Redefining Gait in Neurology.Medical sciences (Basel, Switzerland) · 2026
    Review
  3. Review
  4. Review
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

6 authors.

Eugenio BernardiMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.ORCID 0009-0009-4400-9326
Óscar López-LombardíaMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.
Gonzalo Olmedo-SauraMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.ORCID 0000-0003-4864-5548
Javier PagonabarragaMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.ORCID 0000-0002-3248-704X
Jaime KulisevskyMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.ORCID 0000-0003-4870-1431
Jesús Pérez-PérezMovement Disorders Unit, Neurology Department, Sant Pau Hospital, 08025 Barcelona, Spain.ORCID 0000-0002-9835-0484

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary ataxias are a heterogeneous group of disorders with overlapping clinical presentations but diverse genetic and molecular etiologies. Biomarkers are increasingly essential to improve diagnosis, refine prognosis, and accelerate the development of targeted therapies. Following PRISMA-ScR guidelines, we conducted a scoping review of PubMed and complementary sources (2010-2025) to map and describe the current landscape of genetic, imaging, fluid, electrophysiological, and digital biomarkers across the most prevalent hereditary ataxias, including SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, SCA27B, dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich's ataxia (FRDA),

Indexed as

BiomarkersNeuroimagingSpinocerebellar DegenerationsFriedreich AtaxiaHumansBiomarkersbiomarkerCANVAScerebellar ataxiaFDG-PETFriedreich’s ataxiaFXTASgenetic ataxiahereditary ataxiaMRI biomarkerneurofilament light chainspinocerebellar ataxia

Identifiers

PMID41596528
PMCPMC12841259

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.