Restoring balance to ataxia with coenzyme Q10 deficiency
Hirano, M.; Quinzii, C.M.; Dimauro, S.
Journal of the Neurological Sciences 246(1-2): 11-12
2006
ISSN/ISBN: 0022-510X
PMID: 16678207
DOI: 10.1016/j.jns.2006.03.017
Accession: 050198054
PDF emailed within 0-6 h: $19.90
Related References
Artuch, R.; Brea-Calvo, G.; Briones, P.; Aracil, Aón.; Galván, M.; Espinós, C.; Corral, J.; Volpini, V.; Ribes, A.; Andreu, A.L.; Palau, F.; Sánchez-Alcázar, Jé.A.; Navas, Pácido.; Pineda, Mè. 2006: Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation Journal of the Neurological Sciences 246(1-2): 153-158Jacobsen, J.C.; Whitford, W.; Swan, B.; Taylor, J.; Love, D.R.; Hill, R.; Molyneux, S.; George, P.M.; Mackay, R.; Robertson, S.P.; Snell, R.G.; Lehnert, K. 2018: Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair Jimd Reports 42: 31-36
Cooper, J.M.; Korlipara, L.V.P.; Hart, P.E.; Bradley, J.L.; Schapira, A.H.V. 2008: Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy European Journal of Neurology 15(12): 1371-1379
Lamperti, C.; Naini, A.; Hirano, M.; De Vivo, D.C.; Bertini, E.; Servidei, S.; Valeriani, M.; Lynch, D.; Banwell, B.; Berg, M.; Dubrovsky, T.; Chiriboga, C.; Angelini, C.; Pegoraro, E.; DiMauro, S. 2003: Cerebellar ataxia and coenzyme Q10 deficiency Neurology 60(7): 1206-1208
Millichap, J. G. 2012: Cerebellar Ataxia and Coenzyme Q10 Deficiency Aap Grand Rounds 28(5): 60-60
Balreira, A.; Boczonadi, V.; Barca, E.; Pyle, A.; Bansagi, B.; Appleton, M.; Graham, C.; Hargreaves, I.P.; Rasic, V.M.; Lochmüller, H.; Griffin, H.; Taylor, R.W.; Naini, A.; Chinnery, P.F.; Hirano, M.; Quinzii, C.M.; Horvath, R. 2014: ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency Journal of Neurology 261(11): 2192-2198
Quinzii, C.M.; Kattah, A.G.; Naini, A.; Akman, H.O.; Mootha, V.K.; DiMauro, S.; Hirano, M. 2005: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation Neurology 64(3): 539-541
Paprocka, J.; Nowak, M.; Chuchra, P.; Śmigiel, R. 2022: COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency Metabolites 12(10)
Musumeci, O.; Naini, A.; Slonim, A.E.; Skavin, N.; Hadjigeorgiou, G.L.; Krawiecki, N.; Weissman, B.M.; Tsao, C.Y.; Mendell, J.R.; Shanske, S.; De Vivo, D.C.; Hirano, M.; DiMauro, S. 2001: Familial cerebellar ataxia with muscle coenzyme Q10 deficiency Neurology 56(7): 849-855
Luning Prak, E.T. 2012: Restoring balance to B cells in ADA deficiency Journal of Clinical Investigation 122(6): 1960-1962
Freeman, R.; Naini, A.; Shanske, S.; Dimauro, S.; Shanske, A. 2002: Hypogonadism in familial cerebellar ataxia with muscle coenzyme Q10 deficiency American Journal of Human Genetics 71(4 Suppl): 257
Montero, R.; Pineda, Mé.; Aracil, A.; Vilaseca, M-Antonia.; Briones, P.; Sánchez-Alcázar, Jé-Antonio.; Navas, Pácido.; Artuch, R. 2007: Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency Cerebellum 6(2): 118-122
Stefely, J.A.; Licitra, F.; Laredj, L.; Reidenbach, A.G.; Kemmerer, Z.A.; Grangeray, A.; Jaeg-Ehret, T.; Minogue, C.E.; Ulbrich, A.; Hutchins, P.D.; Wilkerson, E.M.; Ruan, Z.; Aydin, D.; Hebert, A.S.; Guo, X.; Freiberger, E.C.; Reutenauer, L.; Jochem, A.; Chergova, M.; Johnson, I.E.; Lohman, D.C.; Rush, M.J.P.; Kwiecien, N.W.; Singh, P.K.; Schlagowski, A.I.; Floyd, B.J.; Forsman, U.; Sindelar, P.J.; Westphall, M.S.; Pierrel, F.; Zoll, J.; Dal Peraro, M.; Kannan, N.; Bingman, C.A.; Coon, J.J.; Isope, P.; Puccio, H.él.èn.; Pagliarini, D.J. 2016: Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity Molecular Cell 63(4): 608-620
Gironi, M.; Lamperti, C.; Nemni, R.; Moggio, M.; Comi, G.; Guerini, F.R.; Ferrante, P.; Canal, N.; Naini, A.; Bresolin, N.; DiMauro, S. 2004: Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency Neurology 62(5): 818-820
Lagier-Tourenne, C.; Tazir, M.; López, L.C.; Quinzii, C.M.; Assoum, M.; Drouot, N.; Busso, C.; Makri, S.; Ali-Pacha, L.; Benhassine, T.; Anheim, M.; Lynch, D.R.; Thibault, C.; Plewniak, F.éd.ér.; Bianchetti, L.; Tranchant, C.; Poch, O.; DiMauro, S.; Mandel, J.-L.; Barros, M.H.; Hirano, M.; Koenig, M. 2008: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency American Journal of Human Genetics 82(3): 661-672
Bosch, A.M.; Kamsteeg, E.-J.; Rodenburg, R.J.; van Deutekom, A.W.; Buis, D.R.; Engelen, M.; Cobben, J.-M. 2018: Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes Molecular Genetics and Metabolism Reports 17: 19-21
Malicdan, M.C.V.; Vilboux, T.; Ben-Zeev, B.; Guo, J.; Eliyahu, A.; Pode-Shakked, B.; Dori, A.; Kakani, S.; Chandrasekharappa, S.C.; Ferreira, C.R.; Shelestovich, N.; Marek-Yagel, D.; Pri-Chen, H.; Blatt, I.; Niederhuber, J.E.; He, L.; Toro, C.; Taylor, R.W.; Deeken, J.; Yardeni, T.; Wallace, D.C.; Gahl, W.A.; Anikster, Y. 2018: A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency Human Mutation 39(1): 69-79
Cotta, A.; Alston, C.L.; Baptista-Junior, S.; Paim, J.F.; Carvalho, E.; Navarro, M.M.; Appleton, M.; Ng, Y.S.; Valicek, J.; da-Cunha-Junior, A.L.; Lima, M.I.; de la Rocque Ferreira, A.; Takata, R.I.; Hargreaves, I.P.; Gorman, G.ái.S.; McFarland, R.; Pierre, G.; Taylor, R.W. 2020: Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion Jimd Reports 54(1): 45-53
Qiu, N.; Cao, L.; David, V.; Quarles, L.D.; Xiao, Z. 2010: Kif3a deficiency reverses the skeletal abnormalities in Pkd1 deficient mice by restoring the balance between osteogenesis and adipogenesis Plos one 5(12): E15240
Gomez, F.; Saiki, R.; Chin, R.; Srinivasan, C.; Clarke, C.F. 2012: Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation Gene 506(1): 106-116