Evidence map›Paper›PMID 32468478›Full record

ArticleAdvances in experimental medicine and biology2020

Genetic Counseling for Adult-Onset Spinal and Bulbar Muscular Atrophy (Kennedy Syndrome): Multiple Cases of Prenatal Testing in a Family.

Christos Yapijakis, Achilleas Laskaratos, Antonia Angelopoulou, Costas Voumvourakis

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Article in Advances in experimental medicine and biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

4 authors at 2 institutions in 1 country.

Christos Yapijakis1st Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Haghia Sophia" Hospital, Athens, Greece. cyapi@med.uoa.gr.
Achilleas LaskaratosDepartment of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Antonia AngelopoulouDepartment of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Costas Voumvourakis2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Attikon Hospital, Athens, Greece.
National and Kapodistrian University of Athens · GRUniversity General Hospital Attikon · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy syndrome, is an adult-onset neurodegenerative disorder characterized by slowly progressive muscle atrophy and other severe symptoms gradually leading to reduced mobility and ultimately to death due to respiratory failure. Two decades ago we reported the first prenatal diagnosis of SBMA worldwide. Here we present a Greek family in which we have performed seven prenatal DNA tests for SBMA mutation after extensive genetic counseling. Since there is not yet a cure for SBMA, prenatal testing may be a good choice for couples at risk for prevention of this neurodegenerative disorder in their offspring. The issues addressed during genetic counseling for such a disabling disorder of adult onset are discussed as a paradigm for other conditions with similar characteristics.

Indexed as

Family HealthGenetic CounselingMutationPrenatal DiagnosisAdultBulbo-Spinal Atrophy, X-LinkedFemaleGreeceHumansMuscular AtrophyPregnancyAndrogen receptorGenetic counselingKennedy syndromeLate-onset disorderNeurodegenerative diseasePrenatal testingTrinucleotide repeat expansion

Identifiers

PMID32468478
OpenAlexW3029871479

What OpenQuestion holds

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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.