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| 001 | 888307 | ||
| 005 | 20220223143403.0 | ||
| 024 | 7 | _ | |a 10.1007/s12311-020-01201-y |2 doi |
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| 037 | _ | _ | |a FZJ-2020-04827 |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Grosch, Anne Sophie |0 0000-0002-8271-2305 |b 0 |e Corresponding author |
| 245 | _ | _ | |a Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1 |
| 260 | _ | _ | |a London |c 2021 |b Dunitz |
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| 520 | _ | _ | |a Autosomal-dominant spinocerebellar ataxias (SCA) are neurodegenerative diseases characterized by progressive ataxia. Here, we report on neurometabolic alterations in spinocerebellar ataxia type 1 (SCA1; SCA-ATXN1) and 14 (SCA14; SCA-PRKCG) assessed by non-invasive 1H magnetic resonance spectroscopy. Three Tesla 1H magnetic resonance spectroscopy was performed in 17 SCA14, 14 SCA1 patients, and in 31 healthy volunteers. We assessed metabolites in the cerebellar vermis, right cerebellar hemisphere, pons, prefrontal, and motor cortex. Additionally, clinical characteristics were obtained for each patient to correlate them with metabolites. In SCA14, metabolic changes were restricted to the cerebellar vermis compared with widespread neurochemical alterations in SCA1. In SCA14, total N-acetylaspartate (tNAA) was reduced in the vermis by 34%. In SCA1, tNAA was reduced in the vermis (24%), cerebellar hemisphere (26%), and pons (25%). SCA14 patients showed 24% lower glutamate+glutamine (Glx) and 46% lower γ-aminobutyric acid (GABA) in the vermis, while SCA1 patients showed no alterations in Glx and GABA. SCA1 revealed a decrease of aspartate (Asp) in the vermis (62%) and an elevation in the prefrontal cortex (130%) as well as an elevation of myo-inositol (Ins) in the cerebellar hemisphere (51%) and pons (46%). No changes of Asp and Ins were detected in SCA14. Beyond, glucose (Glc) was increased in the vermis of both SCA14 (155%) and SCA1 (247%). 1H magnetic resonance spectroscopy revealed differing neurochemical profiles in SCA1 and SCA14 and confirmed metabolic changes that may be indicative for neuronal loss and dysfunctional energy metabolism. Therefore, 1H magnetic resonance spectroscopy represents a helpful tool for in-vivo tracking of disease-specific pathophysiology. |
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| 773 | _ | _ | |a 10.1007/s12311-020-01201-y |0 PERI:(DE-600)2071266-2 |p 169–178 |t The Cerebellum |v 20 |y 2021 |x 1473-4230 |
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