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

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.

• Authors: Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D'Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertini
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 16 Issue 3 Pg. 248-56 (May 2012) ISSN: 1532-2130 [Electronic] England
• PMID: 21873089 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

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

Topics

• Biopsy
• Cerebellar Ataxia (diagnosis, enzymology, 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, biosynthesis, genetics)