@article {Quinzii539, author = {Quinzii, C. M. and Kattah, A. G. and Naini, A. and Akman, H. O. and Mootha, V. K. and DiMauro, S. and Hirano, M.}, title = {Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation}, volume = {64}, number = {3}, pages = {539--541}, year = {2005}, doi = {10.1212/01.WNL.0000150588.75281.58}, publisher = {Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology}, 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{\textquoteright} observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.}, issn = {0028-3878}, URL = {https://n.neurology.org/content/64/3/539}, eprint = {https://n.neurology.org/content/64/3/539.full.pdf}, journal = {Neurology} }