Reproducibility of cerebellar involvement as quantified by consensus structural MRI biomarkers in advanced essential tremor.

Sci Rep

Neuro Data Science - ORIGAMI Laboratory, McConnell Brain Imaging Centre, The Neuro (Montreal Neurological Institute-Hospital), Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.

Published: January 2023

Essential tremor (ET) is the most prevalent movement disorder with poorly understood etiology. Some neuroimaging studies report cerebellar involvement whereas others do not. This discrepancy may stem from underpowered studies, differences in statistical modeling or variation in magnetic resonance imaging (MRI) acquisition and processing. To resolve this, we investigated the cerebellar structural differences using a local advanced ET dataset augmented by matched controls from PPMI and ADNI. We tested the hypothesis of cerebellar involvement using three neuroimaging biomarkers: VBM, gray/white matter volumetry and lobular volumetry. Furthermore, we assessed the impacts of statistical models and segmentation pipelines on results. Results indicate that the detected cerebellar structural changes vary with methodology. Significant reduction of right cerebellar gray matter and increase of the left cerebellar white matter were the only two biomarkers consistently identified by multiple methods. Results also show substantial volumetric overestimation from SUIT-based segmentation-partially explaining previous literature discrepancies. This study suggests that current estimation of cerebellar involvement in ET may be overemphasized in MRI studies and highlights the importance of methods sensitivity analysis on results interpretation. ET datasets with large sample size and replication studies are required to improve our understanding of regional specificity of cerebellum involvement in ET. PROTOCOL REGISTRATION: The stage 1 protocol for this Registered Report was accepted in principle on 21 March 2022. The protocol, as accepted by the journal, can be found at: https://doi.org/10.6084/m9.figshare.19697776 .

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834264PMC
http://dx.doi.org/10.1038/s41598-022-25306-yDOI Listing

Publication Analysis

Top Keywords

cerebellar involvement
16
essential tremor
8
cerebellar structural
8
cerebellar
7
involvement
5
reproducibility cerebellar
4
involvement quantified
4
quantified consensus
4
consensus structural
4
structural mri
4

Similar Publications

Pediatric cerebellar tumor survivors may present with spontaneous language impairments following treatment, but the nature of these impairments is still largely unclear. A recent study by Svaldi et al. (Cerebellum.

View Article and Find Full Text PDF

Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.

Neurol Sci

January 2025

Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.

Background And Objectives: Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.

Methods: We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.

View Article and Find Full Text PDF

De-regulated protein expression contributes to tumor growth and progression in medulloblastoma (MB), the most common malignant brain tumor in children. MB is associated with impaired differentiation of specific neural progenitors, suggesting that the deregulation of proteins involved in neural physiology could contribute to the transformed phenotype in MB. Calsynthenin 1 (CLSTN1) is a neuronal protein involved in cell-cell interaction, vesicle trafficking, and synaptic signaling.

View Article and Find Full Text PDF

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE. We report a case of a 21-year-old female with MNGIE, presenting with cachexia and chronic diarrhea.

View Article and Find Full Text PDF

Histone deacetylase 6 (HDAC6) is an enzyme crucial in epigenetic regulation and protein degradation, with implications in various cancers and neurodegenerative disorders. While HDAC6 is recognized as a promising therapeutic target for Parkinson's and Alzheimer's diseases, its involvement in spinocerebellar ataxias (SCAs) remains underexplored. Currently, there are no direct methods available for characterizing HDAC6 in the brains of living subjects.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!