Coenzyme Q10-responsive ataxia: 2-Year-treatment follow-up

Movement Disorders

Volumn 25, Issue 9, 2010, Pages 1262-1268

  Pineda, Merce ^a,b   Montero, Raquel ^b,c   Aracil, Asuncion ^a,b   O'Callaghan, Mar M ^a,b   Mas, Ana ^a   Espinos, Carmen ^b   Martinez Rubio, Dolores ^b,d   Palau, Francesc ^b,d   Navas, Placido ^b,e   Briones, Paz ^b,f   Artuch, Rafael ^b,c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^e UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

^f HOSPITAL CLÍNIC   (Spain)

Author keywords

Ataxia; Cerebellum; Coenzyme Q10 deficiency; Mitochondrial disorders; Pediatric patients

Indexed keywords

UBIDECARENONE; UBIQUINONE; VITAMIN;

ABSENCE OF SIDE EFFECTS; ADOLESCENT; ADULT; ARTICLE; CELL LEVEL; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CLINICAL TRIAL; DIET SUPPLEMENTATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG EFFICACY; FEMALE; FIBROBLAST; FOLLOW UP; HUMAN; MALE; MUSCLE LEVEL; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN STUDY; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; RATING SCALE; SCHOOL CHILD; TREATMENT DURATION; TREATMENT RESPONSE; UBIDECARENONE DEFICIENCY; VIDEORECORDING; ANALOGS AND DERIVATIVES; ATAXIA; DEFICIENCY; LONGITUDINAL STUDY; METABOLISM; NEUROLOGIC EXAMINATION; NONPARAMETRIC TEST; PROCEDURES; TIME; TREATMENT OUTCOME; YOUNG ADULT;

ADOLESCENT; ADULT; ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; NEUROLOGIC EXAMINATION; STATISTICS, NONPARAMETRIC; TIME FACTORS; TREATMENT OUTCOME; UBIQUINONE; VITAMINS; YOUNG ADULT;

EID: 77955082584     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23129     Document Type: Article

References (14)

1. 10 deficiency. Neurology 2003;60:1206-1208.
2. 10 deficiency. Am J Hum Genet 2006;78:345-349.
3. Mollet J, Giurgea I, Schlemmer D, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007;117:765-772.
4. 10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006;79:1125-1129.
5. 10 deficiency. Am J Hum Genet 2008;82:661-672.
6. Mollet J, Delahodde A, Serre V, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008;82:623-630.
7. Duncan AJ, Bitner-Glindzicz M, Meunier B, et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q(10) deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 2009;84:558-566.
8. 10 deficiency syndromes. Clin Biochem 2008;41:697-700.
9. 10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. Biofactors 2005;25:109-115.
10. 10 deficiency. N Engl J Med 2008;358:2849-2850.
11. Trouillas P, Takayanagi T, Hallet M, et al. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-211.
12. 10 biosynthetic genes. J Clin Invest 2007;117:587-589.
13. Pineda M, Arpa J, Montero R, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol 2008;12:470-475.
14. Ilg W, Synofzik M, Brötz D, Burkard S, Giese MA, Schöls L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 2009;73:1823-1830.