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

European Journal of Paediatric Neurology

Volumn 16, Issue 3, 2012, Pages 248-256

  Terracciano, Alessandra ^a   Renaldo, Florence ^b   Zanni, Ginevra ^a   D'Amico, Adele ^a   Pastore, Anna ^a   Barresi, Sabina ^a   Valente, Enza Maria ^c   Piemonte, Fiorella ^a   Tozzi, Giulia ^a   Carrozzo, Rosalba ^a   Valeriani, Massimiliano ^a   Boldrini, Renata ^a   Mercuri, Eugenio ^e   Santorelli, Filippo Maria ^a,d   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c Istituto Mendel   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

Coenzyme Q10 deficiency; Inherited cerebellar ataxias; Marinesco Sjogren syndrome

Indexed keywords

UBIDECARENONE;

ARTICLE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CHILDHOOD DISEASE; FEMALE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INHERITED CEREBELLAR ATAXIA; MAJOR CLINICAL STUDY; MALE; MARINESCO SJOGREN SYNDROME; MUSCLE BIOPSY; MUSCLE LEVEL; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETAL MUSCLE;

BIOPSY; CEREBELLAR ATAXIA; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; UBIQUINONE;

EID: 84859954251     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.07.016     Document Type: Article

References (32)

1. Finsterer J. Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci 2009;36:409-12.
2. Harding AE. Clinical features and classification of inherited ataxias. In: Harding AE, editor. Hereditary ataxias and related disorders. Edinburgh: Churchill-Livingstone; 1984. Adv Neurol. 1993; 61: 114.
3. Koenig M. Rare forms of autosomal recessive neurodegenerative ataxia. Semin Pediatr Neurol 2003;10:183-92. (Pubitemid 37414094)
4. De Michele G, Coppola G, Cocozza S, Filla A. A pathogenetic classification of hereditary ataxias: is the time ripe? J Neurol 2004;251:913-22. (Pubitemid 39119309)
5. Palau F, Espinós. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;17(1):47.
6. Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, et al. Posterior fossa imaging in 158 children with ataxia. J Neuroradiol 2010;37:220-30.
7. Boltshauser E. Cerebellar hypoplasias. Handb Clin Neurol 2007;87:115-27.
8. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008;12:155-67. (Pubitemid 351539064)
9. Zheng XX, Shoffner JM, Voljavec AS, Wallace DC. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Review Biochim Biophys Acta 1990;1019:1-10.
10. Pastore A, Giovamberardino GD, Bertini E, Tozzi G, Gaeta LM, Federici G, Piemonte F. Simultaneous determination of ubiquinol and ubiquinone in skeletal muscle of pediatric patients. Anal Biochem 2005;342:352-5. (Pubitemid 40884588)
11. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 2007;18:2773-80. (Pubitemid 47531205)
12. García-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, et al. Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 2009;32:618-29.
13. Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France Zanni G, Bertini E, Bellcross C, Nedelec B, Froyen G, Neuhäuser G, et al. X-linked congenital ataxia: a new locus maps to Xq25-q27.1. Am J Med Genet A 2008;146A:593-600.
14. Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003;60:1206-8. (Pubitemid 36418793)
15. Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, et al. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. J Hum Genet 2010;55:142-6.
16. Herva R, von Wendt L, von Wendt G, Saukkonen AL, Leisti J, Dubowitz V. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics 1987;18:164-9. (Pubitemid 18034095)
17. Goto Y, Komiyama A, Tanabe Y, Katafuchi Y, Ohtaki E, Nonaka I. Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study. Acta Neuropathol 1990;80:123-8.
18. Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, et al. Mutations in SIL1 cause Marinesco- Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005;37:1312-4. (Pubitemid 41722183)
19. Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, et al. Myopathy is a prominent feature in Marinesco-Sjögren syndrome: a muscle computed tomography study. J Neurol 2006;253:301-6.
20. Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, et al. SIL1 and SARA2 mutations in Marinesco- Sjögren and chylomicron retention diseases. Clin Genet 2007;71:288-9.
21. Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, et al. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion 2010;10:510-5.
22. Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008;82:661-72.
23. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008;82:623-30.
24. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006 Feb;78:345-9. (Pubitemid 43157573)
25. Rodríguez-Hernández A, Cordero MD, Salviati L, Artuch R, Pineda M, Briones P, et al. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 2009;5:19-32.
26. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 2007;130:2037-44. (Pubitemid 47236610)
27. Di Giovanni S, Mirabella M, Spinazzola A, Crociani P, Silvestri G, Broccolini A, et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001;57:515-8. (Pubitemid 32757603)
28. Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 2004;62:818-20. (Pubitemid 38298968)
29. Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997;48:1238-43. (Pubitemid 27240541)
30. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005;64:539-41. (Pubitemid 40189878)
31. DiMauro S, Quinzii CM, Hirano M. Mutations in coenzyme Q10 biosynthetic genes. J Clin Invest 2007;117:587-9. (Pubitemid 46348513)
32. Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Human CoQ10 deficiencies. Biofactors 2008;32:113-8.