Authors
Luyao Jin, Shuling Chen, Ying Liu, Renyi She, Wei Jiang
Published in
Molecular genetics & genomic medicine. Volume 14. Issue 7. Pages e70258.
Abstract
To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary cerebellar atrophy (CA).
A 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.
Earlier 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.
Preterm 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.
PMID:
42410965
Bibliographic data and abstract were imported from PubMed on 07 Jul 2026.
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