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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Abstract
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.
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Citations
Cited by
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Mitochondrial Disorders in the Nervous System
DiMauro, S., & Schon, E. A. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094302 · Cited by 536
Self-citationLópez, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/510023 · Cited by 395
Self-citationQuinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/500092 · Cited by 353
Self-citationBiochemistry of Mitochondrial Coenzyme Q Biosynthesis
Stefely, J. A., & Pagliarini, D. J. (2017) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2017.06.008 · Cited by 331
Metadata
- Authors
- Quinzii, C. M., Kattah, A. G., Naini, A., Akman, H. O., Mootha, V. K., DiMauro, S., & Hirano, M.
- Venue
- Neurology
- Published
- 2005-02-08
- Volume
- 64
- Issue
- 3
- Pages
- 539-541
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2110074468
- Cited by
- 171
- References
- 0
- FWCI
- 4.96
- Type
- journal article
- Language
- en
- Open access
- closed
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- 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. https://doi.org/10.1212/01.wnl.0000150588.75281.58
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