Mei Ye, Xiao Ping Qiu, Shengnan Zhang, Ling Wang, Zhongming Gao, Mengyu Liu, Yaping Feng
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引用次数: 0
Abstract
Background: Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder that results in the impaired ability to perform activities of daily living (ADLs). However, there is a lack of objective neuroimaging indices to assess functional decline. In this study, we investigated the association between cerebellar metabolic rate as detected by magnetic resonance spectroscopy (MRS) and ADL performance in patients with SCA3.
Methods: A total of 23 SCA3 patients underwent multivoxel MRS scans of the cerebellar cortex, dentate nucleus, and vermis and were analyzed for associations between the metabolic ratio and the ability to perform activities of daily living (ADL). Metabolic ratios were quantified and correlated with Barthel Index scores. The predictive value of metabolic ratio was assessed using multiple regression and least absolute shrinkage and selection operator (LASSO) analysis.
Results: Our results showed that the NAA/Cr and Cho/Cr ratios in all three brain regions were significantly correlated with higher Barthel Index scores (r = 0.66), indicating a link between neuronal integrity, membrane metabolism, and functional independence. Regression analyses confirmed these associations, and the exploratory LASSO analysis suggested that the combined markers may have potential predictive value in patients' daily lives.
Conclusion: Cerebellar NAA/Cr and Cho/Cr ratios may serve as candidate neuroimaging biomarkers of functional status in patients with SCA3. These preliminary results warrant validation in future studies using advanced MRS quantitative analysis.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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