Abstract
Background: Spinocerebellar ataxia type 12 (SCA12) is a rare SCA subtype with unclear clinical and imaging features. Also, the radiological changes in prodromal and early stages remain unknown. Methods: Ten symptomatic and two presymptomatic cases from three Chinese pedigrees received clinical assessments and imaging studies including routine magnetic resonance imaging (MRI), diffusion kurtosis imaging (DKI), and positron emission tomography (PET) using <sup>18</sup>F-flurodeoxyglucose (FDG) to investigate glucose metabolism in brain and <sup>18</sup>F-vesicle monoamine transporter 2 (VMAT2) to inspect the integrity of the dopaminergic neuron. Seventy-two healthy individuals were recruited as controls in the quantitative FDG-PET analysis. Imaging parameters were compared between symptomatic and presymptomatic cases with different disease durations. Results: Patients displayed prominent action tremor, moderate ataxia, and subtle parkinsonism with poor levodopa-response. MRI showed extensive but heterogeneous cerebral atrophy, which was most evident in the frontoparietal lobes. Cerebellar atrophy was apparent in later stages. DKI detected impaired fibers in the cerebellar peduncles. In both symptomatic and presymptomatic cases, PET-CT showed an earlier FDG decline than atrophic changes in multiple regions, and the frontoparietal lobes were the earliest and most severe. However, the VMAT2 density were normal in the putamen and caudate nucleus of most cases (7/8). Conclusions: We first found that hypometabolism in the cerebral cortex, but not cerebellum, is an early and prominent change in SCA12. The integrity of presynaptic dopaminergic neurons remains largely spared during the whole disease process.
Full Text
Topics from this Paper
- Spinocerebellar Ataxia Type 12
- Frontoparietal Lobes
- Diffusion Kurtosis Imaging
- Glucose Metabolism In Brain
- VMAT2 Density + Show 5 more
Create a personalized feed of these topics
Get StartedTalk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callSimilar Papers
- Journal of Chemical Neuroanatomy
- Feb 4, 2021
- Chinese Medical Journal
- Feb 5, 2015
- World journal of clinical cases
- Oct 26, 2020
- International Journal of Radiation Oncology, Biology, Physics
- Jun 1, 1994
- Experimental Gerontology
- Jun 19, 2008
- Journal of Neural Transmission
- Nov 4, 2012
- European Journal of Nuclear Medicine and Molecular Imaging
- Oct 6, 2017
- British Journal of Anaesthesia
- Jul 1, 2002
- Magnetic Resonance in Medicine
- Feb 1, 2000
- The journal of ECT
- Jun 1, 2000
- Neuroimage
- Aug 8, 2005
- Journal of neurotrauma
- Dec 9, 2022
- Synapse (New York, N.Y.)
- Jun 30, 2022
- Feb 26, 2021
- Diabetes
- Dec 1, 2002
European Neurology
- European Neurology
- Nov 10, 2023
- European Neurology
- Nov 7, 2023
- European Neurology
- Nov 3, 2023
- European Neurology
- Oct 26, 2023
- European Neurology
- Oct 23, 2023
- European Neurology
- Oct 17, 2023
- European Neurology
- Sep 30, 2023
- European Neurology
- Sep 25, 2023
- European Neurology
- Sep 6, 2023
- European Neurology
- Sep 1, 2023