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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)248-256
Number of pages9
JournalEuropean Journal of Paediatric Neurology
Volume16
Issue number3
DOIs
Publication statusPublished - May 2012

Fingerprint

Cerebellar Ataxia
Ataxia
Atrophy
Biopsy
Muscles
Spinocerebellar Degenerations
Mutation
Nonsense Codon
Vacuoles
Neuroimaging
Genes
Early Diagnosis
Skeletal Muscle
Seizures

Keywords

  • Coenzyme Q10 deficiency
  • Inherited cerebellar ataxias
  • Marinesco-Sjogren syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

@article{dffa3ed2a5dc464faaa3f062667a3afd,
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.",
keywords = "Coenzyme Q10 deficiency, Inherited cerebellar ataxias, Marinesco-Sjogren syndrome",
author = "Alessandra Terracciano and Florence Renaldo and Ginevra Zanni and Adele D'Amico and Anna Pastore and Sabina Barresi and Valente, {Enza Maria} and Fiorella Piemonte and Giulia Tozzi and Rosalba Carrozzo and Massimiliano Valeriani and Renata Boldrini and Eugenio Mercuri and Santorelli, {Filippo Maria} and Enrico Bertini",
year = "2012",
month = "5",
doi = "10.1016/j.ejpn.2011.07.016",
language = "English",
volume = "16",
pages = "248--256",
journal = "European Journal of Paediatric Neurology",
issn = "1090-3798",
publisher = "W.B. Saunders Ltd",
number = "3",

}

TY - JOUR

T1 - The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

AU - Terracciano, Alessandra

AU - Renaldo, Florence

AU - Zanni, Ginevra

AU - D'Amico, Adele

AU - Pastore, Anna

AU - Barresi, Sabina

AU - Valente, Enza Maria

AU - Piemonte, Fiorella

AU - Tozzi, Giulia

AU - Carrozzo, Rosalba

AU - Valeriani, Massimiliano

AU - Boldrini, Renata

AU - Mercuri, Eugenio

AU - Santorelli, Filippo Maria

AU - Bertini, Enrico

PY - 2012/5

Y1 - 2012/5

N2 - 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.

AB - 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.

KW - Coenzyme Q10 deficiency

KW - Inherited cerebellar ataxias

KW - Marinesco-Sjogren syndrome

UR - http://www.scopus.com/inward/record.url?scp=84859954251&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84859954251&partnerID=8YFLogxK

U2 - 10.1016/j.ejpn.2011.07.016

DO - 10.1016/j.ejpn.2011.07.016

M3 - Article

C2 - 21873089

AN - SCOPUS:84859954251

VL - 16

SP - 248

EP - 256

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 3

ER -