Assessment of Cerebral Perfusion Integrity in Patients with SCA10
Poster No:
127
Submission Type:
Abstract Submission
Authors:
Miguel Hernandez Perez1, Gustavo Padron-Rivera1, Amanda Chirino-Perez1, Angel Romero-Molina2, Diana Torres1, Allan Rico Becerra1, Gabriel Garcia-Ramirez1, Erick Pasaye3, Juan Fernandez-Ruiz1
Institutions:
1Universidad Nacional Autonoma de Mexico, Mexico City, Mexico City, 2Universidad Veracruzana, Xalapa, Veracruz, 3Instituto de Neurobiologia, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro
First Author:
Co-Author(s):
Allan Rico Becerra, B.S. in Neuroscience
Universidad Nacional Autonoma de Mexico
Mexico City, Mexico City
Universidad Nacional Autonoma de Mexico
Mexico City, Mexico City
Erick Pasaye
Instituto de Neurobiologia, Universidad Nacional Autonoma de Mexico
Juriquilla, Queretaro
Instituto de Neurobiologia, Universidad Nacional Autonoma de Mexico
Juriquilla, Queretaro
Introduction:
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by the presence of dysarthria, nystagmus, gait ataxia, and seizures. The condition is caused by an expansion of the pentanucleotide ATTCT repeat in the ATXN10 gene, which leads to Purkinje neurons death and progressive cerebellar degeneration. Although the disease clinical and genetic aspects are well characterized, its impact in brain perfusion has never been documented, differing from other Ataxias such as 1, 2, 3 and 6. Arterial Spin labelling (ASL) is a non-invasive MRI acquisition modality that allows brain perfusion quantification which may provide insights into disease mechanisms. This study aims to investigate brain perfusion alterations in SCA10 patients compared to matched controls and evaluate their possible correlations between clinical variables such as SARA score and disease progression.
Methods:
The cohort included 11 patients with molecularly confirmed SCA10 and 8 age- and sex-matched control subjects. All patients carried the ATTCT expansion, although the specific repeat numbers were not determined for all cases. Participants had no history of cerebral trauma, psychiatric, or other neurological conditions and were cleared for MRI imaging. MRI acquisitions included T1-weighted, T2-weighted, and arterial spin labeling (ASL) sequences for quantification of brain perfusion using the ExploreASL (https://exploreasl.github.io/Documentation) pipeline. Statistical analyses corrected for multiple comparisons (FDR) were performed to evaluate group differences in perfusion in the cerebellum and assess correlations between regions of interest (ROIs) and clinical metrics, including the Scale for the Assessment and Rating of Ataxia (SARA) and disease duration.
Results:
SCA10 patients exhibited significantly lower perfusion values in bilateral cerebellar regions compared to controls. A significant cluster of 3441 voxels across multiple cerebellar lobules was identified. We included lobules of at least 70 significant voxels. Smaller contributions (< 70 voxels) were excluded to ensure anatomical and statistical robustness as each voxel resolution was 1.5 mm3. Four cerebellar regions with significant perfusion deficits were selected as ROIs for further analysis. Partial correlation analyses demonstrated a significant negative correlation between average perfusion values in these ROIs and SARA scores (p < 0.05). Additionally, strong partial correlations were observed between perfusion in these ROIs and disease duration, remaining significant after corrections for multiple comparisons.
Conclusions:
This study identifies significant reductions in cerebellar perfusion in SCA10 patients compared to control group, correlating strongly with disease severity and duration. These findings suggest that altered cerebellar perfusion is a hallmark of SCA10 and reflects neuronal death and disease progression. The study highlights the potential use of MRI ASL technique a biomarker for tracking disease mechanisms and its impact in cerebellar perfusion in areas involved in motor tasks. The next step of this research is assessing the perfusion differences between groups in partial volume corrected maps.
Disorders of the Nervous System:
Neurodegenerative/ Late Life (eg. Parkinson’s, Alzheimer’s) 1
Modeling and Analysis Methods:
Other Methods
Physiology, Metabolism and Neurotransmission:
Cerebral Metabolism and Hemodynamics 2
Physiology, Metabolism and Neurotransmission Other
Keywords:
Cerebellar Syndromes
Cerebellum
Cerebral Blood Flow
Degenerative Disease
Movement Disorder
MRI
Other - ASL
1|2Indicates the priority used for review
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Provide references using APA citation style.
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