The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

Eur J Paediatr Neurol. 2012 May;16(3):248-56. doi: 10.1016/j.ejpn.2011.07.016. Epub 2011 Aug 27.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / enzymology
  • Cerebellar Ataxia / genetics*
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Female
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Male
  • Muscle, Skeletal / surgery
  • Mutation
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / biosynthesis
  • Ubiquinone / genetics


  • Guanine Nucleotide Exchange Factors
  • SIL1 protein, human
  • Ubiquinone
  • ubiquinone 8
  • coenzyme Q10