ArticleMolecular genetics & genomic medicine2026
Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3.
Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundSpinocerebellar 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.
methodsA 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.
resultsOur 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.
conclusionCerebellar 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.
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