{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T04:25:10Z","timestamp":1792211110059,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008591","name":"Fondazione Grigioni per il Morbo di Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008591","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in <jats:italic>ANO3<\/jats:italic> are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We extensively characterize a new, large <jats:italic>ANO3<\/jats:italic> family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11\u2009years. She later developed a diffuse dystonic tremor and mild extrapyramidal signs (ie, rigidity and hypodiadochokinesis) in her right arm. She also suffered from psychomotor delay and learning difficulties. Repeated structural and functional neuroimaging were unremarkable. A dystonic tremor was also present in her two sisters. Her paternal aunt, father, and a third older sister presented episodic postural tremor in the arms. The father and one sister also presented learning difficulties. The heterozygous p.G6V variant in <jats:italic>ANO3<\/jats:italic> was identified in all affected subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Literature review<\/jats:title><jats:p>Stratification by age at onset divided <jats:italic>ANO3<\/jats:italic> cases into two major groups, where younger patients displayed a more severe phenotype, probably due to variants near the scrambling domain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We describe the phenotype of a new <jats:italic>ANO3<\/jats:italic> family and highlight the need for functional studies to explore the impact of <jats:italic>ANO3<\/jats:italic> variants on its phospholipid scrambling activity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13979","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T04:08:59Z","timestamp":1706501339000},"page":"289-297","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The Clinical Spectrum of <scp><i>ANO3\u2014<\/i><\/scp>Report of a New Family and Literature Review"],"prefix":"10.1002","volume":"11","author":[{"given":"Marco","family":"Percetti","sequence":"first","affiliation":[{"name":"Parkinson Institute, ASST G. Pini\u2010CTO  Milan Italy"},{"name":"School of Medicine and Surgery and Milan Center for Neuroscience University of Milan\u2010Bicocca  Milan Italy"},{"name":"Foundation IRCCS San Gerardo dei Tintori  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Zini","sequence":"additional","affiliation":[{"name":"Parkinson Institute, ASST G. Pini\u2010CTO  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Soliveri","sequence":"additional","affiliation":[{"name":"Parkinson Institute, ASST G. 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