Evidence map›Paper›PMID 39583242›Full record

ArticleRadiology case reports2025

Neuroacanthocytosis: Case report and neuroimaging findings.

Luana Lemos Alves, Paula Lemos de Castro, André Barboza Ferreira, Lucas de Abreu Neves Bello de Campos, Pedro Guilherme Mol da Fonseca, Thiago Duarte Torres, Mateus Pereira Dos Santos Gomes, Vitor Cassiano Albuquerque Maiolo, Paulo Roberto Valle Bahia

Abstract readCase Reports
In one paragraph

Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Luana Lemos AlvesUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Paula Lemos de CastroUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
André Barboza FerreiraUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Lucas de Abreu Neves Bello de CamposUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Pedro Guilherme Mol da FonsecaUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Thiago Duarte TorresUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Mateus Pereira Dos Santos GomesUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Vitor Cassiano Albuquerque MaioloUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Paulo Roberto Valle BahiaUniversidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuroacanthocytosis syndromes are rare inherited neurodegenerative disorders, characterized by the presence of acanthocytes. Among them, Choreoacanthocytosis and McLeod syndrome stand out, sharing similarities with Huntington's disease, including choreic movement disorders, psychiatric symptoms, and cognitive decline. The case described involves a 36-year-old patient with cognitive deficits, involuntary movements, and ataxic gait. Cranial computed tomography revealed accentuation of cortical sulci and cisterns and atrophy of the caudate nucleus with ex-vacuo dilatation of the anterior horns of the lateral ventricles. Magnetic resonance imaging confirmed these findings and showed putamen atrophy and hypointensity in the basal nuclei. Diagnosis included peripheral blood smear, which revealed numerous acanthocytes, culminating in neuroacanthocytosis, specifically choreoacanthocytosis.

Indexed as

DystoniaMovement disordersNeuroacanthocytosisNeurogeneticsNeuroradiology

Identifiers

PMID39583242
PMCPMC11585466

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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.