Article
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2012
Terracciano Alessandra, Renaldo Florence, Zanni Ginevra, D'Amico Adele, Pastore Anna, Barresi Sabina, Valente Enza Maria, Piemonte Fiorella, Tozzi Giulia, Carrozzo Rosalba, Valeriani Massimiliano, Boldrini Renata, Mercuri Eugenio, Santorelli Filippo Maria, Bertini Enrico
Abstract excerpt
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...
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