Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features.

Overview

1. School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Community and Family Medicine, Preventive Medicine and Public Health Research Center, School of Medicine, Psychosocial Health Research Institute, Iran University of Medical Sciences, Tehran, Iran
3. Men’s Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disorder caused by a CAG repeat expansion in the PPP2R2B gene. It is characterized by tremor, cerebellar ataxia, and a wide range of neurological symptoms. The heterogeneity of SCA12 symptoms, particularly in movement presentation, highlights the need for standardized studies to better define its clinical spectrum.

Summary: This review evaluates the spectrum of movement disorder symptoms, focusing on their type, age of onset, and progression, and highlights areas requiring further research. Tremor, typically action or postural, is often the initial symptom, followed by progressive cerebellar dysfunction, including gait instability, dysmetria, and dysdiadochokinesia, supported by neuroimaging evidence of cerebellar atrophy. Other movement-related features, such as dystonia and parkinsonism, further complicate the clinical picture. Psychiatric manifestations, including cognitive decline and depression, are also reported, though their prevalence varies. A clear characterization of the movement symptoms of SCA12 will guide future research into targeted therapeutic strategies, addressing the significant unmet needs of affected patients. This review underscores the importance of a multidisciplinary approach to studying SCA12, combining all relevant clinical data to advance knowledge and improve patient outcomes.

Key Messages: SCA12 presents predominantly with tremor, often preceding cerebellar signs by years. The clinical phenotype is broader than previously recognized, including dystonia, parkinsonism, and neuropsychiatric symptoms. Clinical variability may delay suspicion of SCA12, supporting early genetic testing. Systematic clinical characterization is critical for improving patient management.

Reproduced under the paper's license (CC BY-NC), from the paper cited above.

Code

The paper links to its data, not to its authors' code: see the Data section.

Tracing map

A tracing map links a paper to the code its authors published: this paper has none, so it has no map.

Data

Datasets cited

• figshare:32933213, at figshare; found in DataCite

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

• Publisher: n/a → Karger Publishers

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, pages, dates, 4 authors, 5 keywords, 72 references.

Cite

This paper

Rafiei, M. A., Sadeghzadeh, S., Salari, M., & Etemadifar, M. (2026). Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features. Neuro-degenerative diseases, 1-12. https://doi.org/10.1159/000553488

Similar papers

The papers with a page that share the most with this one: the tools found in their code, their categories, datasets, cited references and authors, the rarest counting most.

[1] doi:10.3389/fnagi.2026.1767582

Structural brain changes in the development of essential tremor: toward early diagnosis.

Journal: Frontiers in aging neuroscience

In common: other condition, 1 reference

[2] doi:10.1002/mds.70349 [code]

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society

In common: other condition, 1 reference

[3] doi:10.1186/s10020-026-01471-y

Modest rescue of RBFOX1 splicing function attenuates Huntington's disease features.

Journal: Molecular medicine (Cambridge, Mass.)

In common: other condition, 1 reference

Contribute

The authors of this paper can claim it, correct its record and validate its tracing map, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to OSCR's own machine, which answers it; your account page follows them.

Request its removal

To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).

Discussion: questions and error reports about this paper and its code, from signed-in readers and its authors. It opens with sign-in.

Reproductions: reports from readers who ran the authors' code: what they reproduced, with which environment, commit and data. It opens with sign-in.

Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.