ArticleEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2012
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
Article in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 31 citations in OpenAlex.
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.International journal of molecular sciences · 2025Review
- Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.Clinical medicine insights. Case reports · 2023Article
- Review
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
- A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in neurology · 2020Review
- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme QJIMD reports · 2018Article
- Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.Clinical genetics · 2016Article
- Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Journal of inherited metabolic disease · 2015Review
- Genetics of coenzyme q10 deficiency.Molecular syndromology · 2014Article
- Biochemical diagnosis of coenzyme q10 deficiency.Molecular syndromology · 2014Article
- Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.JIMD reports · 2014Article
- Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.Orphanet journal of rare diseases · 2013Article
- Cerebellar Ataxia andJournal of neurological disorders & stroke · 2013Article
- Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.Journal of child neurology · 2012Article
- Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.Archives of neurology · 2012Review
- ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.Movement disorders clinical practiceArticle
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15 authors at 4 institutions in 2 countries.
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Abstract
Childhood cerebellar ataxias, and particularly congenital ataxias, are heterogeneous disorders and several remain undefined. We performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. Significant reduced levels of Coenzyme Q10 (COQ10) were found in the skeletal muscle of 9 out of 34 patients that were consecutively screened. A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI.
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