ArticleFrontiers in neuroscience2026
Spinocerebellar ataxia with mixed tremor and hippocampal atrophy: case report and literature review.
Article in Frontiers in neuroscience, 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
Objective: This study aimed to investigate the clinical features of spinocerebellar ataxia 12 (SCA12). Methods: Sanger sequencing-based genetic testing was performed on a patient initially diagnosed with essential tremor. Results: The patient exhibited an abnormal expansion of 69 cytosine-adenine-guanine (CAG) repeats, confirming the diagnosis of SCA12. Conclusion: SCA12 may present with mixed tremor, predominantly postural/kinetic tremor with a superimposed resting component and hippocampal atrophy. However, the direct association between hippocampal atrophy and SCA12 pathology remains unclear and may reflect concomitant age-related or vascular changes. Furthermore, PPP2R2B gene abnormalities may also affect the synergistic function of the basal ganglia-thalamocortical and cerebello-thalamocortical circuits.
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