Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-021-05152-y.pdf
Reference10 articles.
1. Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH (2012) Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 69(5):630–635. https://doi.org/10.1001/archneurol.2012.54
2. Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A (2014) Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 75(4):542–549. https://doi.org/10.1002/ana.24119
3. Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S (2015) A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 30(3):423–427. https://doi.org/10.1002/mds.26115
4. Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology 85(1):80–88. https://doi.org/10.1212/WNL.0000000000001720
5. Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH (2015) ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations. Neurology 85(23):2026–2035. https://doi.org/10.1212/WNL.0000000000002058
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1. Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder;Journal of Pediatric Genetics;2024-07-04
2. ADCY5-related dyskinesia — case series with literature review;Neurologia i Neurochirurgia Polska;2024-04-30
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