Evidence map›Paper›PMID 38433132›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.

Yuqiu Zheng, Yingfang She, Zhengwei Su, Kanghui Huang, Shuda Chen, Liemin Zhou

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. 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
0.7field-weighted citation impact, top 32% 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, 3 citations in OpenAlex.

  1. Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    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 1 institution in 1 country.

Yuqiu ZhengDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China.ORCID http://orcid.org/0000-0002-3194-7956
Yingfang SheDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China.
Zhengwei SuDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China.
Kanghui HuangDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China.
Shuda ChenDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China. chenshuda@sysush.com.
Liemin ZhouDepartment of Neurology, the Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, Guangdong Province, China. lmzhou56@163.com.
Sun Yat-sen University · CN

Funding

Shenzhen San Ming Project SZSM201911003
6 · The paper itself

Abstract

TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. Thus far, merely nine patients harboring five different variants (c.425 + 1G > A; c.413_414delinsAA, p. Ser138*; c.400C > T, p. Arg134*; c.636 + 3_ 636 + 6 del; c.4G > T, p. Glu2*) in TDP2 gene have been reported. Here, we describe the tenth patient with a novel variant (c.650del, p. Gly217GlufsTer7) and new phenotype (pituitary tumor and hyperhidrosis).

Indexed as

HyperhidrosisPhosphoric Diester HydrolasesPituitary NeoplasmsAdolescentDNA-Binding ProteinsFemaleHumansInfantMutationSpinocerebellar AtaxiasDNA-Binding ProteinsPhosphoric Diester HydrolasesTDP2 protein, humanEpilepsyPituitary tumor and hyperhidrosisSpinocerebellar ataxia autosomal recessive 23TDP2

Identifiers

PMID38433132
OpenAlexW4392362777

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.