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- W2808666726 abstract "Objective: To describe a patient with T398A mutation in mitochondrial ND5 gene that presented improvement in motor skills after CoQ10 supplementation. Background: ND5 mutations have been described in patients with different clinical conditions, such as LHON, MELAS, Leigh-like syndrome and overlapping mitochondriopathy syndromes. The correct identification of mithocondrial genes is mandatory since they may have a response to CoQ10 therapy. Design/Methods: A 6-year-old boy presented with delayed milestones since birth. Neurological examination disclosed cognitive impairment and severe ataxia. Brain MRI showed cerebellar atrophy. Whole exome sequence analysis depicted homoplasmic mutation T398A in mitochondrial gene ND5 . Results: The patient had a marked improvement after CoQ10 supplementation with doses up to 55 mg/kg/day. After six months in therapy, a marked improvement in speech, dysmetria, walking speed and ataxia was observed. Estimated scale for the assessment and rating of ataxia (SARA) had an improvement from 28 (before CoQ10 supplementation) to 19 points (six months after CoQ10 supplementation). Conclusions: This report demonstrates that ND5 gene mutations should be investigated in suspected mithocondrial disorders and treatment with CoQ10 should be promptly considered. Disclosure: Dr. Pedroso has nothing to disclose. Dr. Drumond Gama has nothing to disclose. Dr. Arita has nothing to disclose. Dr. Ravagnani has nothing to disclose. Dr. Barros has nothing to disclose. Dr. Sanches has nothing to disclose. Dr. Picosse has nothing to disclose. Dr. Lopes has nothing to disclose. Dr. Aguiar has nothing to disclose. Dr. Chiaratti has nothing to disclose. Dr. Habermann Macabelli has nothing to disclose. Dr. Masruha has nothing to disclose. Dr. Barsottini has nothing to disclose. Dr. Quinzii Hirano has nothing to disclose. Dr. Hirano has received (royalty or license fee or contractual rights) payments from MitoRainbow Therapeutics, Inc. Dr. Ferreiro Barros has nothing to disclose." @default.
- W2808666726 created "2018-06-21" @default.
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- W2808666726 date "2017-04-18" @default.
- W2808666726 modified "2023-09-30" @default.
- W2808666726 title "Mitochondrial ND5 mutation: neurological improvement after CoQ10 supplementation (P5.122)" @default.
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