Rare but Instructive: Pediatric-Onset Spinocerebellar Ataxia Type 2 and Its Clinical and Genetic Insights.

Hongxu Wang, Didi Shan, Jianing Li, Yuying Zhao, Chuanzhu Yan, Fuchen Liu

Abstract readCase ReportsReview

In one paragraph

Review in Cerebellum (London, England), 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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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Hongxu WangDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Didi ShanDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Jianing LiDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Yuying ZhaoDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Chuanzhu YanDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Fuchen LiuDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. fuchen.liu@email.sdu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansion in the ATXN2 gene. While typically adult-onset, pediatric cases are rare and exhibit distinct clinical features. Here, we report two pediatric-onset SCA2 cases. A 7-year-old boy with involuntary movements, developmental delay, and 58 CAG repeats, and a 16-year-old boy with tremors and gait instability carrying 44 repeats. Both showed cerebellar atrophy on MRI. A literature review of 22 genetically confirmed pediatric SCA2 cases revealed a strong inverse correlation between CAG repeat length and age at onset (R2 = 0.6131, P < 0.00001). Common features included developmental delay, hypotonia, epilepsy, and dystonia, with 79% of cases showing paternal inheritance. These findings underscore the importance of considering SCA2 in children with atypical neurodevelopmental symptoms and highlight the role of genetic anticipation in early-onset cases.

Indexed as

Ataxin-2Spinocerebellar AtaxiasAdolescentAge of OnsetChildHumansMagnetic Resonance ImagingMaleTrinucleotide Repeat ExpansionAtaxin-2ATXN2 protein, humanDynamic MutationGenetic AnticipationMolecular DiagnosisSpinocerebellar Ataxia Type 2

Identifiers

PMID41831135

DOI10.1007/s12311-026-01980-w

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.