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• W2580459966 abstract "Objective: The objective of this study was to define the clinical spectrum of MTATP6 -related mitochondrial disease in a large clinical cohort. Background: Mutations in the mitochondrial MTATP6 gene are an established cause of mitochondrial disease. Phenotypes related to these mutations include Leigh syndrome (LS), and the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP); however, intermediate phenotypes have also been reported. Methods: We identified all patients with confirmed pathogenic MTATP6 mutations from the Medical Research Council (MRC) Mitochondrial disease (predominantly adult) patient cohort, Newcastle, UK (N = 678), and analyzed all available medical data of the patients. Results: We identified 20 patients with mitochondrial disease due to MTATP6 mutations. Eighteen patients (90 [percnt]) manifested with cerebellar ataxia, mostly associated with lower limb spasticity, all (100 [percnt]) had peripheral neuropathy, and 16 patients (80 [percnt]) had some degree of cognitive dysfunction. Six patients (30 [percnt]) had clinically evident retinitis pigmentosa (RP), four (20 [percnt]) exhibited the complete NARP phenotype, and five (25 [percnt]) had a presentation compatible with LS. Significant balance problems, mostly complicated by lower limb spasticity, resulted in frequent falls or in being wheelchair-bound in 13 (65 [percnt]) patients. Seven (35 [percnt]) patients presented with various movement disorders. Conclusions: Only a minority of patients with MTATP6 mutations present with the classical LS and NARP syndromes. The vast majority of patients have an ataxia, peripheral neuropathy, and cognitive dysfunction and these should be considered core features in patients with genetic defects in MTATP6 . Disclosure: Dr. Martikainen has nothing to disclose. Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Horvath has nothing to disclose. Professor Patrick F. Chinnery has received research support from Santhera Pharmaceuticals. Dr. Blakely has nothing to disclose. Dr. Alston has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. McFarland has nothing to disclose. Dr. Turnbull has nothing to disclose." @default.
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• W2580459966 date "2016-04-05" @default.
• W2580459966 modified "2023-10-17" @default.
• W2580459966 title "The Core Clinical Features of MTATP6-Related Mitochondrial Disease (S30.005)" @default.
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