title: 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.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Terracciano
authors.forename: Florence
authors.initials: F
authors.lastname: Renaldo
authors.forename: Ginevra
authors.initials: G
authors.lastname: Zanni
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Anna
authors.initials: A
authors.lastname: Pastore
authors.forename: Sabina
authors.initials: S
authors.lastname: Barresi
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Fiorella
authors.initials: F
authors.lastname: Piemonte
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Valeriani
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D001706:Biopsy; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000601:surgery; D009154:Mutation; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000096:biosynthesis / Q000235:genetics
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human; D014451:Ubiquinone; C030778:ubiquinone 8; C024989:coenzyme Q10