ArticleMolecular genetics & genomic medicine2026
Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single-Center Study.
Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single-Center Study.Molecular genetics & genomic medicine · 2026Article
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5 authors.
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Abstract
objectiveTo investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary cerebellar atrophy (CA).
methodA cohort of 102 pediatric patients diagnosed with hereditary CA was enrolled at the Children's Hospital of Chongqing Medical University (2015-2024). Univariate and multivariate analyses assessed clinical-neuroimaging-genetic correlations.
resultsEarlier onset correlated with prematurity (p = 0.039) and negative family history (p = 0.042); diagnostic delay with unremarkable perinatal history (p = 0.038). Motor delay was more prevalent in males (100% vs. 91.1%). Gross motor scores were lower in membrane transporters (26.78 ± 17.90, p = 0.027) and metabolic diseases (28.09 ± 26.26, p = 0.025) compared to cytoskeletal proteinopathies (47.81 ± 13.55). Multivariate analysis identified age at onset and diagnostic delay as independent predictors of motor and cognitive development delay and enzymopathies/glycoprotein disorders for global developmental delay (OR = 4.4, p = 0.042). Early onset (≤ 6 months) elevated the risk of ataxia (OR = 6.75, p = 0.021). Atrophy severity independently predicted motor and cognitive impairment.
conclusionPreterm birth, male sex, and negative family history predicted earlier onset, urging early neuroimaging. Early onset and severe/complex cerebellar atrophy indicated poorer prognosis. While ataxia was uncommon overall, onset ≤ 6 months increased its risk. Metabolic disorders contributed to significant motor deficits, underscoring the need for early genetic testing and targeted management.
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