Evidence map›Paper›PMID 32166732›Full record

ArticleJournal of applied genetics2020

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Krzysztof Szczałuba, Hanna Mierzewska, Robert Śmigiel, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Małgorzata Rydzanicz, Rafał Płoski

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

Article in Journal of applied genetics, 2020. 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
0.6field-weighted citation impact, top 39% 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, 8 citations in OpenAlex.

  1. Review
  2. Article
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

10 authors at 2 institutions in 1 country.

Krzysztof SzczałubaDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0001-8803-646X
Hanna MierzewskaDepartment of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.
Robert ŚmigielDepartment of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Wroclawa Medical University, Wroclaw, Poland.ORCID https://orcid.org/0000-0003-2930-9549
Joanna KosińskaDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0003-3767-6584
Agnieszka KoppoluDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0001-8862-3242
Anna BiernackaDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0002-2736-3798
Piotr StawińskiDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0001-7113-4434
Agnieszka PollakDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0002-2847-1782
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0002-6969-0535
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland. rploski@wp.pl.ORCID https://orcid.org/0000-0001-6286-5526
Medical University of Warsaw · PLWroclaw Medical University · PL

Funding

Narodowe Centrum Nauki 2017/27/B/NZ5/02223Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu SUB.E160.19.004
6 · The paper itself

Abstract

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known variant c.1160_1161delCA (p.Thr387fs) that was found in the largest ever group of patients coming from four families. The patients exhibited early hypotonia progressing to spastic paraplegia, microcephaly, epilepsy, and central nervous system (CNS) defects and global developmental delay that are consistent with the nature of SPG47. Our findings expand phenotypic spectrum of SPG47 to include polymorphic seizures, mild/moderate intellectual disability, and intracerebral cysts as well as point to founder mutation in AP4 deficiency disorders in apparently non-consanguineous Polish families without shared ancestry.

Indexed as

Adaptor Protein Complex 4Adaptor Protein Complex beta SubunitsAdolescentChildChild, PreschoolExome SequencingFemaleGenetic Predisposition to DiseaseGenetic VariationHomozygoteHumansInfantIntellectual DisabilityMaleMutationNeurodevelopmental DisordersAdaptor Protein Complex 4Adaptor Protein Complex beta SubunitsAP4B1 protein, humanAP4B1Exome sequencingHereditary spastic paraplegiaNeurodevelopmental disorder

Identifiers

PMID32166732
PMCPMC7148264
OpenAlexW3010928434

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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.