Evidence map›Paper›PMID 40526232›Full record

ReviewCerebellum (London, England)2025

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Mehri Salari, Kamran Rezaei, Mahsa Haghighatzadeh, Maryam Mirabedini, Masoud Etemadifar

Abstract readReview
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In one paragraph

Review in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

5 authors.

Mehri SalariMen's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Kamran RezaeiStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran. kamran_rezaei@yahoo.com.
Mahsa HaghighatzadehShohada Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Maryam MirabediniShohada Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Masoud EtemadifarFaculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOculomotor apraxia (OMA), the clinical manifestation of impaired voluntary initiation of saccadic eye movements, has long been associated with several disorders and genetic mutations in the literature.

objectivesThe present study aims to review all the disorders and genetic mutations associated with OMA reported in the literature.

methodsPubMed, MEDLINE, Scopus, EMBASE, and Web of Science databases were systematically searched for related keywords, and related publications from January 2000 to January 2024 were reviewed.

resultsAll the disorders and genetic mutations presented with OMA in the literature were reported. Clinical manifestations of the congenital disorders- particularly members of autosomal recessive cerebellar ataxias- including Joubert syndrome, ataxia with oculomotor apraxia, ataxia-telangiectasia, and other disorders were discussed, Additionally, the pathophysiology of the genetic mutations in the anatomical pathway of OMA is discussed in this paper.

conclusionsMost of the cases with OMA present this sign early in their disease course; thus, evaluating the possible differential diagnoses can guide clinicians to a more accurate diagnosis. Understanding the spectrum of disorders and clinical manifestations with OMA also provides valuable insights into further clinic-pathological and genetic evaluations of this clinical manifestation.

Indexed as

ApraxiasCerebellumCogan SyndromeHumansMutationRetinaGeneticMovement disordersOcular motor apraxiaOculomotor apraxia

Identifiers

What Socratic holds

Textmetadata
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 Socratic graph.