{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T19:03:13Z","timestamp":1793473393993,"version":"4.5.0"},"reference-count":26,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>There is no authorized treatment for ataxia telangiectasia (AT). As cerebellar symptoms of storage diseases were improved by acetyl-DL-leucine (ADLL), the authors hypothesized a symptomatic and disease-modifying effect in AT upon supplementation with ADLL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Six patients were treated with ADLL 3 g\/day for 1 week followed by 5g\/day for 3 weeks to 1 year. Cerebellar ataxia was evaluated by validated scales. Gaze-holding, saccades and smooth pursuit were examined by video-oculography. Measurements took place at baseline, at 1 month of therapy in 5 patients, and after 6 and 12 months in 1 patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The Scale for Assessment and Rating of Ataxia changed from the baseline, mean, (SD, min-max) of 22.1 (5.88, 11-28.5) to 18 points (5.39, 8.5-23.5) after 1 month on medication ( P = .0028). All patients demonstrated gaze-holding deficits; 3 patients had central-position downbeat-nystagmus. Mean slow-phase velocity of this nystagmus with the gaze straight-ahead changed from 5.57\u00b0\/s (1.8, 3.53-6.99) to 4.7\u00b0\/s (0.79, 3.97-5.56) after 1 month on treatment (1.35, -2.56-4.17) ( P = .046).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation:<\/jats:title>\n                    <jats:p>ADLL may improve ataxia and ocular stability in AT patients, while the molecular basis still remains to be elucidated. A multicentric, rater-blinded, phase II trial currently investigates the effects of acetyl-L-leucine in AT (NCT03759678).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738211028394","type":"journal-article","created":{"date-parts":[[2021,10,10]],"date-time":"2021-10-10T03:00:04Z","timestamp":1633834804000},"page":"20-27","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":21,"title":["Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia"],"prefix":"10.1177","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7270-8866","authenticated-orcid":false,"given":"Adriana","family":"Brueggemann","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Sonnenhofspital, Lindenhofgruppe, Bern, Switzerland"},{"name":"Shares the first author 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University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Mantokoudis","sequence":"additional","affiliation":[{"name":"Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Abegg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Koln\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Comenius University Children\u2019s Hospital, Department of Child Neurology, Bratislava, Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Mohaupt","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Sonnenhofspital, Lindenhofgruppe, Bern, Switzerland"},{"name":"Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Bremova-Ertl","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Sonnenhofspital, Lindenhofgruppe, Bern, Switzerland"},{"name":"Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland"},{"name":"Center for Rare Diseases, Institute for Clinical Chemistry, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland"},{"name":"German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University Hospital, Campus Grosshadern, Munich, 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