Evidence map›Paper›PMID 33471268›Full record

ArticleNeurogenetics2021

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.

Luca Magistrelli, Roberta Croce, Fabiola De Marchi, Chiara Basagni, Miryam Carecchio, Nicola Nasuelli, Roberto Cantello, Federica Invernizzi, Barbara Garavaglia, Cristoforo Comi and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023
    Review
  3. Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023
    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

13 authors.

Luca MagistrelliDepartment of Translational Medicine, Section of Neurology, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.
Roberta CroceDepartment of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Fabiola De MarchiDepartment of Translational Medicine, Section of Neurology, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.
Chiara BasagniDepartment of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Miryam CarecchioDepartment of Neuroscience, University of Padua, Padua, Italy.
Nicola NasuelliSS Trinità Hospital, Borgomanero, ASL Novara, Novara, Italy.
Roberto CantelloDepartment of Translational Medicine, Section of Neurology, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.
Federica InvernizziMedical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbara GaravagliaMedical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Cristoforo ComiDepartment of Translational Medicine, Section of Neurology, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.
Letizia MazziniALS Center, Department of Neurology, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy.
Sandra D'Alfonso *Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Lucia Corrado *Department of Health Sciences, University of Eastern Piedmont, Novara, Italy. Lucia.corrado@med.uniupo.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Indexed as

AgedBrainBrain DiseasesExonsFemaleHumansMutationPedigreePhenotypeSodium-Phosphate Cotransporter Proteins, Type IIIXenotropic and Polytropic Retrovirus ReceptorSLC20A2 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIIXenotropic and Polytropic Retrovirus ReceptorXPR1 protein, humanMotor neuronPrimary familil brain calcificationSLC20A2

Identifiers

PMID33471268
PMCPMC7997821

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Registered trials

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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.