Evidence map›Paper›PMID 32676850›Full record

ArticleCerebellum (London, England)2020

Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.

Yi-Chu Du, Yin Ma, Ya-Ru Shao, Shi-Rui Gan, Yi Dong, Zhi-Ying Wu

Abstract read
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 49% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Homozygous spinocerebellar ataxia type 3 in China: a case report.The Journal of international medical research · 2021
    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

6 authors at 3 institutions in 1 country.

Yi-Chu Du *Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Yin Ma *Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Ya-Ru ShaoDepartment of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Shi-Rui GanDepartment of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Yi DongDepartment of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Zhi-Ying WuDepartment of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China. zhiyingwu@zju.edu.cn.
Second Affiliated Hospital of Zhejiang University · CNFirst Affiliated Hospital of Fujian Medical University · CNHuashan Hospital · CN

Funding

National Natural Science Foundation of China 81125009Scholar of Zhejiang University to Zhi-Ying Wu 188020-193810101/089
6 · The paper itself

Abstract

Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) in ATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. Here, we demonstrated that unstable transmissions occurred more often in sons than in daughters (91% vs 72%, Fisher's exact test, p = 0.012). The extended delta-expCAG of father-son transmissions was greater than that of mother-son transmissions (3.8 ± 2.3 repeats vs 1.6 ± 1.0 repeats, Mann-Whitney U, p = 0.001). Genetic anticipation was frequently observed between generations but not affected by the delta-expCAG.

Indexed as

AdultAnticipation, GeneticAsian PeopleAtaxin-3ChinaFemaleGenetic Predisposition to DiseaseHumansMachado-Joseph DiseaseMaleMiddle AgedRepressor ProteinsTrinucleotide Repeat ExpansionTrinucleotide RepeatsYoung AdultAtaxin-3ATXN3 protein, humanRepressor ProteinsChineseGenetic anticipationIntergenerational transmissionSpinocerebellar ataxia type 3

Identifiers

PMID32676850
OpenAlexW3042256167

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.