Association between functional alterations and specific transcriptional expression patterns in craniocervical dystonia

IF 3.1 3区 医学 Q2 CLINICAL NEUROLOGY Parkinsonism & related disorders Pub Date : 2025-01-31 DOI:10.1016/j.parkreldis.2025.107315
Gang Liu , Jiana Zhang , Haoran Zhang , Qinxiu Cheng , Xiaodong Zhang , Jun Liu , Yuhan Luo , Linchang Zhong , Zhengkun Yang , Yue Zhang , Zilin Ou , Zhicong Yan , Weixi Zhang , Kangqiang Peng , Huiming Liu , Jinping Xu
{"title":"Association between functional alterations and specific transcriptional expression patterns in craniocervical dystonia","authors":"Gang Liu ,&nbsp;Jiana Zhang ,&nbsp;Haoran Zhang ,&nbsp;Qinxiu Cheng ,&nbsp;Xiaodong Zhang ,&nbsp;Jun Liu ,&nbsp;Yuhan Luo ,&nbsp;Linchang Zhong ,&nbsp;Zhengkun Yang ,&nbsp;Yue Zhang ,&nbsp;Zilin Ou ,&nbsp;Zhicong Yan ,&nbsp;Weixi Zhang ,&nbsp;Kangqiang Peng ,&nbsp;Huiming Liu ,&nbsp;Jinping Xu","doi":"10.1016/j.parkreldis.2025.107315","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>Craniocervical dystonia (CCD) is a large-scale network disorder that involves functional changes in multiple brain regions. However, the association between these functional changes and the underlying molecular mechanisms has not been explored.</div></div><div><h3>Objective</h3><div>We aimed to characterize the molecular changes associated with the imaging-defined functional architecture of the brain in CCD.</div></div><div><h3>Methods</h3><div>Resting-state functional magnetic resonance imaging (rs-fMRI) data were obtained from 146 patients with CCD and 137 healthy controls (HCs). Differences in the amplitude of low-frequency fluctuations (ALFF), fractional ALFF (fALFF), and regional homogeneity (ReHo) were compared between groups. Transcriptomic data were obtained from the Allen Human Brain Atlas to identify the gene expression patterns underlying the affected functional architecture in CCD using partial least squares regression.</div></div><div><h3>Results</h3><div>Compared to HCs, patients with CCD showed common functional alterations, mainly in the left middle occipital gyrus, right middle occipital gyrus, right calcarine, right precentral gyrus, and left postcentral gyrus. These functional alteration patterns were positively associated with 1763 genes (including five risk genes for dystonia) enriched for synaptic signaling, regulation of trans-synaptic signaling, and neuronal systems, while they were negatively associated with 2318 genes (including eight risk genes for dystonia), which were enriched for monoatomic cation transport, DNA damage response and neurodevelopment.</div></div><div><h3>Conclusions</h3><div>Our study reveals a genetic pathological mechanism explaining CCD-related brain functional changes.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107315"},"PeriodicalIF":3.1000,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Parkinsonism & related disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1353802025000562","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose

Craniocervical dystonia (CCD) is a large-scale network disorder that involves functional changes in multiple brain regions. However, the association between these functional changes and the underlying molecular mechanisms has not been explored.

Objective

We aimed to characterize the molecular changes associated with the imaging-defined functional architecture of the brain in CCD.

Methods

Resting-state functional magnetic resonance imaging (rs-fMRI) data were obtained from 146 patients with CCD and 137 healthy controls (HCs). Differences in the amplitude of low-frequency fluctuations (ALFF), fractional ALFF (fALFF), and regional homogeneity (ReHo) were compared between groups. Transcriptomic data were obtained from the Allen Human Brain Atlas to identify the gene expression patterns underlying the affected functional architecture in CCD using partial least squares regression.

Results

Compared to HCs, patients with CCD showed common functional alterations, mainly in the left middle occipital gyrus, right middle occipital gyrus, right calcarine, right precentral gyrus, and left postcentral gyrus. These functional alteration patterns were positively associated with 1763 genes (including five risk genes for dystonia) enriched for synaptic signaling, regulation of trans-synaptic signaling, and neuronal systems, while they were negatively associated with 2318 genes (including eight risk genes for dystonia), which were enriched for monoatomic cation transport, DNA damage response and neurodevelopment.

Conclusions

Our study reveals a genetic pathological mechanism explaining CCD-related brain functional changes.

Abstract Image

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
求助全文
约1分钟内获得全文 去求助
来源期刊
Parkinsonism & related disorders
Parkinsonism & related disorders 医学-临床神经学
CiteScore
6.20
自引率
4.90%
发文量
292
审稿时长
39 days
期刊介绍: Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.
期刊最新文献
Editorial Board Convergence insufficiency and Parkinson's disease progression Cognitive measures predict falls in Parkinson's disease: Insights from the CYCLE-II cohort Infantile-onset choreo-dystonia due to a novel homozygous truncating HPCA variant: A first report from India. TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor!
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1