Article
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Annals of neurology - 1 Aug 2020
Traschütz Andreas, Schirinzi Tommaso, Laugwitz Lucia, Murray Nathan H, Bingman Craig A, Reich Selina, Kern Jan, Heinzmann Anna, Vasco Gessica, Bertini Enrico, Zanni Ginevra, Durr Alexandra, Magri Stefania, Taroni Franco, Malandrini Alessandro, Baets Jonathan, de Jonghe Peter, de Ridder Willem, Bereau Matthieu, Demuth Stephanie, Ganos Christos, Basak A Nazli, Hanagasi Hasmet, Kurul Semra Hiz, Bender Benjamin, Schöls Ludger, Grasshoff Ute, Klopstock Thomas, Horvath Rita, van de Warrenburg Bart, Burglen Lydie, Rougeot Christelle, Ewenczyk Claire, Koenig Michel, Santorelli Filippo M, Anheim Mathieu, Munhoz Renato P, Haack Tobias, Distelmaier Felix, Pagliarini David J, Puccio Hélène, Synofzik Matthis
Abstract excerpt
OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10). METHODS: Cross-modal analysis of a multicenter cohort of 59 COQ8A patients, including genotype-phenotype correlations, 3D-protein modeling, in vitro...
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