CASE REPORT article
Front. Neurosci.
Sec. Neurogenomics
Spinocerebellar Ataxia Presenting with Mixed Tremor and Hippocampal Atrophy: A Case Report and Literature Review
Provisionally accepted
- 1Hubei University of Chinese Medicine, Wuhan, China
- 2Wuhan Hospital of Integrated Traditional Chinese and Western Medicine, Wuhan, China
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Objective: To investigate the clinical features of spinocerebellar ataxia 12 ( SCA12).Methods: Genetic testing via Sanger sequencing was conducted on a patient with an initial diagnosis of essential tremor. Results: The patient was found to have an abnormal CAG repeat expansion of 69 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 likely reflects concomitant age-related or vascular changes. It is also suggested that PPP2R2B gene abnormalities may affect the synergistic function of the basal ganglia-thalamocortical and cerebello-thalamocortical circuits.
Keywords: Ataxia, Clinical Characteristics, gene, Genetics, Trinucleotide repeat
Received: 12 Nov 2025; Accepted: 30 Jan 2026.
Copyright: © 2026 Wang, Zhou, Shao and Guo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Xuan Wang
Wei Shao
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