Evidence map›Paper›PMID 33958741›Full record

ArticleEuropean journal of human genetics : EJHG2021

Evidence of mosaicism in SPAST variant carriers in four French families.

Chloé Angelini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Bénédicte Heron, Bophara Kol, Marine Guillaud-Bataille, Perrine Pennamen, Caroline Rooryck and 5 more

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 52% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Spastic Quadriplegia Resulting From a Pathogenic Variant in theCase reports in neurological medicine · 2026
    Article
  2. A novel variant ofAnnals of translational medicine · 2022
    Article
  3. Clinical genetics-it's polygenic.European journal of human genetics : EJHG · 2021
    Article
  4. 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

15 authors at 7 institutions in 2 countries.

Chloé AngeliniService de Génétique Médicale, CHU Bordeaux, Bordeaux, Bordeaux, France.ORCID 0000-0002-5825-5319
Cyril GoizetService de Génétique Médicale, CHU Bordeaux, Bordeaux, Bordeaux, France.
Samia Ait SaidSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.
William CamuCentre de référence SLA, explorations neurologiques, CHU et Univ Montpellier, Montpellier, France.ORCID 0000-0003-1287-7355
Christel DepienneSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.ORCID 0000-0002-7212-9554
Bénédicte HeronService de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, GHUEP, APHP, Paris, France.
Bophara KolSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.
Marine Guillaud-BatailleSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.
Perrine PennamenService de Génétique Médicale, CHU Bordeaux, Bordeaux, Bordeaux, France.ORCID 0000-0002-0363-9884
Caroline RooryckService de Génétique Médicale, CHU Bordeaux, Bordeaux, Bordeaux, France.
Clarisse Scherer-GagouCentre National de Référence pour les Maladies Neurogénétiques de l'Adulte, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Laurène TissierSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.
Giovanni StevaninSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.ORCID 0000-0001-9368-8657
Eric LeguernSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France. eric.leguern@aphp.fr.
Guillaume BanneauSorbonne Université, AP-HP, GH Pitié-Salpêtrière, Département de génétique, Paris, France.
Université Paris Cité · FRInserm · FRUniversité de Bordeaux · FRCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Bordeaux · FRSorbonne Université · FRUniversité de Montpellier · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.

Indexed as

HeterozygoteMosaicismMutationAllelesChildComparative Genomic HybridizationFemaleFranceGene FrequencyHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMiddle AgedPedigreePhenotypeSpastinSPAST protein, human

Identifiers

PMID33958741
PMCPMC8298572
OpenAlexW3159066600

What OpenQuestion holds

Textmetadata
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.