Evidence map›Paper›PMID 41484683›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026

Clinical and genetic findings of three patients with chorea-acanthocytosis.

Anna D'Amico, Roberta Cucunato, Giuseppe Schirò, Elda Del Giudice, Salvatore Iacono, Paolo Ragonese, Marco D'Amelio, Paolo Aridon

Abstract readCase Reports
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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

8 authors.

Anna D'AmicoDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0009-0003-1938-9677
Roberta CucunatoDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0009-0000-3442-984X
Giuseppe SchiròDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0009-0002-9632-1994
Elda Del GiudiceResearch & Innovation s.r.l. (R&I Genetics), Padova, I-35127, Italy.
Salvatore IaconoDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0000-0003-0035-5859
Paolo RagoneseDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0000-0003-2516-1567
Marco D'AmelioDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy.ORCID http://orcid.org/0000-0002-2178-6749
Paolo AridonDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Section of Neurology, University of Palermo, Via Gaetano la Loggia n.1, Palermo, 90129, Italy. paolo.aridon@unipa.it.ORCID http://orcid.org/0000-0002-7424-9533

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionChorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in the VPS13A gene, encoding chorein, a protein involved in membrane homeostasis. CASE REPORT AND

methodsThree clinical cases are described. The first, a 36-year-old man, presented with hyperkinetic movements, seizures, psychiatric symptoms, and caudate atrophy. Genetic testing revealed a homozygous splice-site mutation (c.9276-2 A> T) in VPS13A. The second case involved a patient with a milder phenotype but typical ChAc features, except epilepsy. A homozygous deletion which includes exons 69 and 70 was identified. This deletion is absent from control population databases and is described for the first time. Her younger brother, complaining of hyperCKemia and involuntary movements, was tested and identified as a homozygous carrier of the same deletion.

conclusionsChAc should be considered in case of patients featuring a plethora of diffuse symptoms showing multisystemic involvement. Comprehensive genetic testing in patients with complex neurological symptoms might improve diagnostic accuracy and enhance knowledge of genotype-phenotype correlations in ChAc.

Indexed as

NeuroacanthocytosisVesicular Transport ProteinsAdultBrainFemaleHumansMaleMutationVesicular Transport ProteinsVPS13A protein, humanChorea-acanthocytosisChoreinExome SequencingVps13a

Identifiers

PMID41484683

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