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

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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.

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来源期刊

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.