Evidence map›Paper›PMID 36139378›Full record

ArticleCells2022

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.

Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 56% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

19 authors at 3 institutions in 3 countries.

Stojan PerićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.ORCID 0000-0002-2979-556X
Vladana MarkovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Ayşe CandayanVIB-UAntwerp Center for Molecular Neurology, VIB, 2610 Antwerpen, Belgium.ORCID 0000-0002-3528-2293
Els De VriendtVIB-UAntwerp Center for Molecular Neurology, VIB, 2610 Antwerpen, Belgium.
Nikola MomčilovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Andrija SavićNeurosurgery Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Nataša Dragašević-MiškovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Marina SvetelNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Zorica StevićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Ivo BožovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Šarlota MesarošNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Jelena DrulovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.ORCID 0000-0002-4516-3458
Ivana BastaNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Igor PetrovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Olivera TamašNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Milija MijajlovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Ivana NovakovićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Dragoslav SokićNeurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.ORCID 0000-0003-0226-9727
Albena JordanovaVIB-UAntwerp Center for Molecular Neurology, VIB, 2610 Antwerpen, Belgium.ORCID 0000-0002-3833-3754
University of Belgrade · RSUniversity of Antwerp · BEVIB-UAntwerp Center for Molecular Neurology · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosomal recessive inheritance, and 15.7% of sporadic cases. Twelve families had mutations in the SPAST gene, usually with a pure HSP phenotype. Three sporadic patients had conclusive findings in the SPG11 gene. Two unrelated patients carried a homozygous pathogenic mutation c.233T>A (p.L78*) in SPG7 that is a founder Roma mutation. One patient had a heterozygous de novo variant in the KIF5A gene, and one had a compound heterozygous mutation in the ZYFVE26 gene. The combined genetic yield of our gene panel and CNV analysis for HSP was around 30%. Our findings broaden the knowledge on the genetic epidemiology of HSP, with implications for molecular diagnostics in this region.

Indexed as

Neural Cell Adhesion Molecule L1Spastic Paraplegia, HereditaryDNA Copy Number VariationsGenetic HeterogeneityHumansKinesinsMembrane Transport ProteinsPhenotypeProspective StudiesProteinsSerbiaSpastinKIF5A protein, humanKinesinsMembrane Transport ProteinsNeural Cell Adhesion Molecule L1ProteinsREEP1 protein, humanSpastinSPAST protein, humanSPG11 protein, humancomplicated HSPgenetic testinghereditary spastic paraplegiapure HSP

Identifiers

PMID36139378
PMCPMC9497238
OpenAlexW4294953572

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.