Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1

Autor: M. Rönnefarth, Michael Scheel, Tanja Schmitz-Hübsch, Jan Leo Rinnenthal, Martina Minnerop, Silke Lux, S. Doss, Anne Sophie Grosch, Alexander U. Brandt, Matthias Endres, Friedemann Paul
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Adult
Male
Spinocerebellar Ataxia Type 1
medicine.medical_specialty
Magnetic Resonance Spectroscopy
1H magnetic resonance spectroscopy
metabolism [Spinocerebellar Ataxias]
Neurochemical profile
03 medical and health sciences
SCA1
0302 clinical medicine
Neurochemical
Cerebellar hemisphere
Internal medicine
medicine
Humans
Spinocerebellar Ataxias
ddc:610
Prefrontal cortex
030304 developmental biology
Aged
0303 health sciences
business.industry
Brain
Middle Aged
medicine.disease
Pons
Endocrinology
medicine.anatomical_structure
Cross-Sectional Studies
Neurology
metabolism [Brain]
SCA14
Spinocerebellar ataxia
Cerebellar vermis
Original Article
Female
Neurology (clinical)
business
Function and Dysfunction of the Nervous System
030217 neurology & neurosurgery
600 Technik
Medizin
angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
Motor cortex
Zdroj: Cerebellum (London, England)
The Cerebellum 20, 169–178 (2021). doi:10.1007/s12311-020-01201-y
The Cerebellum 20(2), 169-178 (2021). doi:10.1007/s12311-020-01201-y
ISSN: 1473-4230
1473-4222
DOI: 10.1007/s12311-020-01201-y
Popis: 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. Electronic supplementary material The online version of this article (10.1007/s12311-020-01201-y) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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