Evidence map›Paper›PMID 33602179›Full record

ArticleBMC neurology2021

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington's disease.

Katalin Despotov, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabriella Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, László Vécsei, András Ajtay, Dániel Bereczki and 1 more

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

Article in BMC neurology, 2021. 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
0.1field-weighted citation impact, top 64% 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, 2 citations in OpenAlex.

  1. 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

11 authors at 2 institutions in 1 country.

Katalin DespotovDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Dénes ZádoriDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Gábor VeresDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Katalin JakabDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Gabriella GárdiánDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Eszter TóthDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
Tamás Zsigmond KincsesDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
László VécseiDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.
András AjtayDepartment of Neurology, Semmelweis University, Budapest, Hungary.
Dániel BereczkiDepartment of Neurology, Semmelweis University, Budapest, Hungary.
Péter KlivényiDepartment of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary. klivenyi.peter@med.u-szeged.hu.
University of Szeged · HUSemmelweis University · HU

Funding

Hungarian Brain Research Program 2017-1.2.1-NKP-2017-00002 NAP VI/4University of Szeged Open Access Fund 4802
6 · The paper itself

Abstract

backgroundRecent advances in therapeutic options may prevent deterioration related to Huntington's disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring outcome. Accordingly, the aim of this study was to describe the characteristics of a Hungarian subpopulation of HD patients and mutation carriers diagnosed at the University of Szeged.

methodsWe conducted a search for International Classification of Diseases (ICD) code G10H0 in the local medical database for the period of 1 January 1998 to 31 December 2018.

resultsWe identified 90 HD cases (male: 45, female: 45) and 34 asymptomatic carriers (male: 15, female: 19). The median age of onset was 45 years (range: 16-79). There were 3 cases of juvenile onset (3.3%), and 7 of late disease onset (7.8%). The median repeat length was 43 (range: 36-70) for the pathological and 19 for the non-pathological alleles (range: 9-35). 17.5% of the pathological alleles were in the decreased penetrance range, while 7% of non-pathological alleles were intermediate.

conclusionsThe genetic and clinical features of the population examined in the present study were in line with the previous Hungarian study, as well as with international literature. The exceptions were the higher ratio of reduced penetrance and intermediate alleles.

Indexed as

AdolescentAdultAgedAge of OnsetFemaleHumansHungaryHuntingtin ProteinHuntington DiseaseMaleMiddle AgedYoung AdultHuntingtin ProteinDemographicsHuntington’s diseasePopulation geneticsTrinucleotide repeat expansion

Identifiers

PMID33602179
PMCPMC7890867
OpenAlexW3120265764

What OpenQuestion holds

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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.