Evidence map›Paper›PMID 41975469›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

CGG Repeat Expansion in GIPC1 is Associated with Childhood-Onset Hereditary Ataxia.

Ying Wu, Taoyun Ji, Quanzhen Tan, Xingzhi Chang, Shirang Pan, Jing An, Enrui Chen, Yuwu Jiang, Jianwen Deng, Cuijie Wei

Abstract readCase Reports
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Ying WuChildren's Medical Center, Peking University First Hospital, Beijing, China.
Taoyun JiChildren's Medical Center, Peking University First Hospital, Beijing, China.
Quanzhen TanChildren's Medical Center, Peking University First Hospital, Beijing, China.
Xingzhi ChangChildren's Medical Center, Peking University First Hospital, Beijing, China.
Shirang PanCoWin Biosciences, Beijing, China.
Jing AnDepartment of Neurology, Peking University First Hospital, Beijing, China.
Enrui ChenChildren's Medical Center, Peking University First Hospital, Beijing, China.
Yuwu JiangChildren's Medical Center, Peking University First Hospital, Beijing, China.
Jianwen DengDepartment of Neurology, Peking University First Hospital, Beijing, China.ORCID https://orcid.org/0000-0003-1206-1778
Cuijie WeiChildren's Medical Center, Peking University First Hospital, Beijing, China.ORCID https://orcid.org/0009-0004-6032-3837

Funding

Clinical Medicine Plus X-Young Scholars Project of Peking University PKU2025PKULCXQ026National Natural Science Foundation of China 82171846National Natural Science Foundation of China 82402177National Natural Science Foundation of China 82422025The Beijing High-Level Innovation and Entrepreneurship Talent Support Program-Healthcare Platform young backbone talent projects G202531202
6 · The paper itself

Abstract

backgroundHereditary ataxias are genetically heterogeneous; however, despite major advances in next-generation sequencing technologies, 20%-54% of childhood-onset cases remain genetically undiagnosed.

objectiveTo elucidate the genetic etiology of childhood-onset hereditary ataxia.

methodsOxford Nanopore long-read genome sequencing (LRS) was performed in two unrelated Chinese patients with clinically suspected childhood-onset hereditary ataxia.

resultsBoth patients presented with childhood-onset, slowly progressive ataxia, accompanied by mild cognitive impairment. Brain magnetic resonance imaging demonstrated cerebellar atrophy, and electromyography showed neurogenic damage. Muscle biopsy revealed fiber-type grouping, indicative of neurogenic changes, with no evidence of primary myopathy. LRS detected pathogenic-length CGG repeat expansions (>100 repeats) in GIPC1, which were validated by repeat-primed polymerase chain reaction.

conclusionsThese findings expand the phenotypic spectrum associated with GIPC1 CGG repeat expansion and define a novel subtype of childhood-onset hereditary ataxia accompanied by mild cognitive impairment and neurogenic involvement. © 2026 International Parkinson and Movement Disorder Society.

Indexed as

Adaptor Proteins, Signal TransducingSpinocerebellar DegenerationsTrinucleotide Repeat ExpansionAge of OnsetChildCognitive DysfunctionFemaleHumansMagnetic Resonance ImagingMaleAdaptor Proteins, Signal Transducingchildhood‐onset hereditary ataxiaGIPC1long‐read sequencingshort tandem repeats

Identifiers

PMID41975469
PMCPMC13518280

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.