{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:40:00Z","timestamp":1782603600812,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood\u2010onset motor neuron disease (MND) with hearing loss, formerly described as Brown\u2010Vialetto\u2010Van\u2010Lear syndrome. We describe a 18\u2010year\u2010old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub\u2010clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial should be discussed in young\u2010onset MND.<\/jats:p>","DOI":"10.1002\/acn3.50977","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T12:36:15Z","timestamp":1580906175000},"page":"250-253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["A juvenile ALS\u2010like phenotype dramatically improved after high\u2010dose riboflavin treatment"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7000-9367","authenticated-orcid":false,"given":"Christophe","family":"Carreau","sequence":"first","affiliation":[{"name":"Department of Neurology Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re (AP\u2010HP) 47\u201083 Boulevard de l'H\u00f4pital 75013 Paris 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