Evidence map›Paper›PMID 30219976›Full record

ArticleCerebellum (London, England)2019

Selective Forces Related to Spinocerebellar Ataxia Type 2.

Lucas Schenatto Sena, Raphael Machado Castilhos, Eduardo Preusser Mattos, Gabriel Vasata Furtado, José Luiz Pedroso, Orlando Barsottini, Maria Marla Paiva de Amorim, Clecio Godeiro, Maria Luiza Saraiva Pereira, Laura Bannach Jardim

Erratum issuedOpen access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 37% 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, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Lucas Schenatto SenaPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Raphael Machado CastilhosServiço de Neurologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Eduardo Preusser MattosPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Gabriel Vasata FurtadoPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
José Luiz PedrosoSetor de Neurologia Geral e Ataxias. Disciplina de Neurologia Clínica da UNIFESP - Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Orlando BarsottiniSetor de Neurologia Geral e Ataxias. Disciplina de Neurologia Clínica da UNIFESP - Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Maria Marla Paiva de AmorimUniversidade Federal do Rio Grande do Norte, Natal, Brazil.
Clecio GodeiroUniversidade Federal do Rio Grande do Norte, Natal, Brazil.
Maria Luiza Saraiva PereiraPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Laura Bannach JardimPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. ljardim@hcpa.edu.br.ORCID http://orcid.org/0000-0001-6907-5068
Universidade Federal do Rio Grande do Sul · BRUniversidade Federal de São Paulo · BRUniversidade Federal do Rio Grande do Norte · BRHospital de Clínicas de Porto Alegre · BR

Funding

Fundo de Incentivo à Pesquisa do Hospital de Clínicas de Porto Alegre (FIPE-HCPA) GPPG HCPA 16-320
6 · The paper itself

Abstract

Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2. Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Adult subjects from families with molecular diagnosis provided data about all his/her relatives. Affected and unaffected sibs older than 65.7 years of age were used to estimate reproductive success and segregation patterns. Twenty-one SCA2 families were studied, including 1017 individuals (164 affected) who were born from 1840 to 2012. The median number of children of the non-carriers and carriers, among 99 subjects included in the reproductive success analysis, were 2 and 3 (p < 0.025), respectively. Therefore, the reproductive success of carriers was 1.5. There were 137 non-carriers (59.6%) and 93 carriers (40.4%) (p = 0.04), among subjects included in the segregation analysis. Age at onset across generations pointed to anticipation as a frequent phenomenon. We raised evidence in favor of increased reproductive success related to the carrier state at ATXN2, and segregation distortion favoring normal alleles. Since majority of normal alleles analyzed carried 22 repeats, we propose that this distortion segregation can be related to the high frequency of this allele in human chromosomes.

Indexed as

Genetic FitnessSelection, GeneticAdolescentAdultAgedAged, 80 and overAge of OnsetAtaxin-2FemaleHeterozygoteHumansMaleMiddle AgedSiblingsSpinocerebellar AtaxiasTrinucleotide Repeat ExpansionAtaxin-2ATXN2 protein, humanAnticipationCAG repeatsReproductive successSCA2Segregation distortionSpinocerebellar ataxia type 2

Identifiers

PMID30219976
OpenAlexW2891437643

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.