Evidence map›Paper›PMID 38239817›Full record

ArticleNeurology. Genetics2023

Carlo Manco, Rosa Cortese, Manfredi Alberti, Silvia Bianchi, Lucia Monti, Nicola De Stefano, Carla Battisti

Erratum issuedOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 19% of its field
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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025
    Review
  3. Erratum: Missing Full Disclosures.Neurology. Genetics · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Carlo MancoFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
Rosa CorteseFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.ORCID https://orcid.org/0000-0002-9803-7914
Manfredi AlbertiFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.ORCID https://orcid.org/0000-0001-5320-1023
Silvia BianchiFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
Lucia MontiFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
Nicola De StefanoFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.ORCID https://orcid.org/0000-0003-4930-7639
Carla BattistiFrom the Centre for Precision and Translational Medicine (C.M., R.C., S.B., N.D.S., C.B.), Department of Medicine, Surgery and Neuroscience, University of Siena; Neurology Unit (M.A.), Department of Neurology and Human Movement Sciences, University Hospital of Siena; Department of Medical, Surgical and Neurological Science (M.A.), University of Siena; and Diagnostic and Functional Neuroimaging Unit (L.M.), Department of Neurology and Human Movement Sciences, University Hospital of Siena, Italy.
University of Siena · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The objective of this case report was to describe the first report of Methods: Considering the patient's symptoms, a nonprogressive leukoencephalopathy was suspected. CSF 5-methyltetrahydrofolate levels were low (10 nmol/L, normal range 41-117). With no other identifiable causes, a genetic analysis was conducted, revealing a compound heterozygous Results: A 47-year-old man with a history of drug and alcohol abuse was admitted to the hospital for double vision and postural instability. MRI of the brain was performed, which showed bilateral leukoencephalopathy. Diffusion tensor imaging revealed a diffuse reduction in fractional anisotropy, suggesting microstructural changes. MRI of the brain and overall clinical picture were stable on subsequent serial examinations. Discussion: Scientific evidence supports the deleterious effect of c.45G>T and c.493+2T>C variations on the folate receptor-α (FRα) protein structure and function. The weakness of the expression and function of FRα without elimination of its function caused by specific compound heterozygous variations may explain the atypical features observed in our patient. Although rare, CFD should be considered in paucisymptomatic adult patients with stable diffuse MRI white matter changes.

Identifiers

PMID38239817
PMCPMC10629229
OpenAlexW4388265104

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.