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

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...

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Main Authors:	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
Format:	Online
Language:	English
Published:	Saunders 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341568/

id	pubmed-3341568
recordtype	oai_dc
spelling	pubmed-33415682012-05-08 The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children 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 Original Article 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. Saunders 2012-05 /pmc/articles/PMC3341568/ /pubmed/21873089 http://dx.doi.org/10.1016/j.ejpn.2011.07.016 Text en © 2012 Elsevier Ltd. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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
spellingShingle	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 The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
author_facet	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
author_sort	Terracciano, Alessandra
title	The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
title_short	The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
title_full	The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
title_fullStr	The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
title_full_unstemmed	The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
title_sort	use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
description	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.
publisher	Saunders
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341568/
_version_	1611526268763766784

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

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