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Both share repeat expansions in<jats:italic>C9orf72<\/jats:italic>as the most prevalent genetic cause. Before disease-defining symptoms onset, structural and functional changes at cortical level may emerge in<jats:italic>C9orf72<\/jats:italic>carriers. Here, we characterized oculomotor parameters and their association to neuropsychological domains in apparently asymptomatic individuals with mutations in ALS\/FTD genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>Forty-eight carriers of ALS genes, without any clinical symptoms underwent video-oculographic examination, including 22 subjects with<jats:italic>C9orf72<\/jats:italic>mutation, 17 with<jats:italic>SOD1<\/jats:italic>, and 9 with other ALS associated gene mutations (<jats:italic>n<\/jats:italic>\u2009=\u20093<jats:italic>KIF5A<\/jats:italic>;<jats:italic>n<\/jats:italic>\u2009=\u20093<jats:italic>FUS\/FUS<\/jats:italic>\u2009+\u2009<jats:italic>TBK1<\/jats:italic>;<jats:italic>n<\/jats:italic>\u2009=\u20091<jats:italic>NEK1<\/jats:italic>;<jats:italic>n<\/jats:italic>\u2009=\u20091<jats:italic>SETX<\/jats:italic>;<jats:italic>n<\/jats:italic>\u2009=\u20091<jats:italic>TDP43<\/jats:italic>). A total of 17 subjects underwent a follow-up measurement. Data were compared to 54 age- and gender-matched healthy controls. Additionally, mutation carriers performed a neuropsychological assessment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In comparison to controls, the presymptomatic subjects performed significantly worse in executive oculomotor tasks such as the ability to perform correct anti-saccades. A gene mutation subgroup analysis showed that dysfunctions in<jats:italic>C9orf72<\/jats:italic>carriers were much more pronounced than in<jats:italic>SOD1<\/jats:italic>carriers. The anti-saccade error rate of ALS mutation carriers was associated with cognitive deficits: this correlation was increased in subjects with<jats:italic>C9orf72<\/jats:italic>mutation, whereas<jats:italic>SOD1<\/jats:italic>carriers showed no associations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In<jats:italic>C9orf72<\/jats:italic>carriers, executive eye movement dysfunctions, especially the increased anti-saccade error rate, were associated with cognitive impairment and unrelated to time. These oculomotor impairments are in support of developmental deficits in these mutations, especially in prefrontal areas.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s00415-021-10510-z","type":"journal-article","created":{"date-parts":[[2021,3,11]],"date-time":"2021-03-11T18:02:48Z","timestamp":1615485768000},"page":"3390-3399","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Eye movement alterations in presymptomatic C9orf72 expansion gene carriers"],"prefix":"10.1007","volume":"268","author":[{"given":"Anna","family":"Behler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antje","family":"Knehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Finsel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin S.","family":"Kunz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Peter","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmar H.","family":"Pinkhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C.","family":"Ludolph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Lul\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7106-9270","authenticated-orcid":false,"given":"Jan","family":"Kassubek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,11]]},"reference":[{"key":"10510_CR1","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1002\/ana.25276","volume":"84","author":"M Benatar","year":"2018","unstructured":"Benatar M, Wuu J, Andersen PM et al (2018) Neurofilament light: a candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion: neurofilament light in presymptomatic ALS. 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