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Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GA2031\/1\u20102"],"award-info":[{"award-number":["GA2031\/1\u20102"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GA2031\/1\u20101"],"award-info":[{"award-number":["GA2031\/1\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To foster trial\u2010readiness of coenzyme Q8A (COQ8A)\u2010ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A\u2010ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cross\u2010modal analysis of a multicenter cohort of 59 COQ8A patients, including genotype\u2013phenotype correlations, 3D\u2010protein modeling, in vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, and CoQ10 response data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010nine patients (39 novel) with 44 pathogenic <jats:italic>COQ8A<\/jats:italic> variants (18 novel) were identified. Missense variants demonstrated a pleiotropic range of detrimental effects upon protein modeling and in vitro analysis of purified variants. COQ8A\u2010ataxia presented as variable multisystemic, early\u2010onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms. Multisystemic involvement was more prevalent in missense than biallelic loss\u2010of\u2010function variants (82\u201393% vs 53%; <jats:italic>p<\/jats:italic> =\u20090.029). Cerebellar atrophy was universal on MRI (100%), with cerebral atrophy or dentate and pontine T2 hyperintensities observed in 28%. Cross\u2010sectional (n = 34) and longitudinal (n = 7) assessments consistently indicated mild\u2010to\u2010moderate progression of ataxia (SARA: 0.45\/year). CoQ10 treatment led to improvement by clinical report in 14 of 30 patients, and by quantitative longitudinal assessments in 8 of 11 patients (SARA: \u22120.81\/year). Explorative sample size calculations indicate that \u226548 patients per arm may suffice to demonstrate efficacy for interventions that reduce progression by 50%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study provides a deeper understanding of the disease, and paves the way toward large\u2010scale natural history studies and treatment trials in COQ8A\u2010ataxia. <jats:bold>ANN NEUROL 2020;88:251\u2013263<\/jats:bold><\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.25751","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T05:50:15Z","timestamp":1587966615000},"page":"251-263","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":76,"title":["Clinico\u2010Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A<\/i><\/scp>\u2010Ataxia: A Multicenter Study of 59 Patients"],"prefix":"10.1002","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-5898","authenticated-orcid":false,"given":"Andreas","family":"Trasch\u00fctz","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie\u2010Institute for Clinical Brain Research and Center of Neurology University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Schirinzi","sequence":"additional","affiliation":[{"name":"Neurorehabilitation Unit, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children Hospital  Rome Italy"},{"name":"Department of Systems Medicine University of Roma Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Laugwitz","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Department of Pediatric Neurology University Children\u2019s Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan H.","family":"Murray","sequence":"additional","affiliation":[{"name":"Morgridge Institute for Research  Madison WI USA"},{"name":"Department of Biochemistry University of Wisconsin\u2010Madison  Madison WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig A.","family":"Bingman","sequence":"additional","affiliation":[{"name":"Morgridge Institute for Research  Madison WI USA"},{"name":"Department of Biochemistry University of Wisconsin\u2010Madison  Madison WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selina","family":"Reich","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie\u2010Institute for Clinical Brain Research and Center of Neurology University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kern","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology University Children\u2019s Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Heinzmann","sequence":"additional","affiliation":[{"name":"Brain and Spine Institute (ICM) Sorbonne Universit\u00e9, Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital  Paris France"},{"name":"AP\u2010HP, Department of Genetics Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gessica","family":"Vasco","sequence":"additional","affiliation":[{"name":"Neurorehabilitation Unit, Department of Neurosciences IRCCS Bambino 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