The Clinical Spectrum of ANO3—Report of a New Family and Literature Review

• Published in: Movement disorders clinical practice (Hoboken, N.J.) Vol. 11; no. 3; pp. 289 - 297
• Main Authors: Percetti, Marco, Zini, Michela, Soliveri, Paola, Cogiamanian, Filippo, Ferrara, Mariarosa, Orunesu, Eva, Ranghetti, Alessandra, Ferrarese, Carlo, Pezzoli, Gianni, Garavaglia, Barbara, Isaias, Ioannis Ugo, Sacilotto, Giorgio
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.03.2024; Wiley Subscription Services, Inc
• Subjects: ANO3; anoctamin; Anoctamins - genetics; Case Series with Literature Review; Child; dystonia; Dystonia - genetics; Dystonic Disorders - genetics; Female; Humans; Learning disabilities; Literature reviews; Mutation; Phenotype; scramblase; TMEM16C; Tremor (Muscular contraction); Tremor - diagnosis; scramblase; TMEM16C; dystonia; anoctamin; ANO3

Background Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood. Cases We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic move...