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FRAXA Syndromes

MedGen UID:
199597
Concept ID:
C0751156
Disease or Syndrome
Synonyms: FRAXA Syndrome; Syndrome, FRAXA; Syndromes, FRAXA

Professional guidelines

PubMed

Aran A, Cayam Rand D
Expert Opin Emerg Drugs 2024 Mar;29(1):65-79. Epub 2024 Jan 23 doi: 10.1080/14728214.2024.2306290. PMID: 38226593
Aishworiya R, Valica T, Hagerman R, Restrepo B
Neurotherapeutics 2022 Jan;19(1):248-262. Epub 2022 Jan 14 doi: 10.1007/s13311-022-01183-1. PMID: 35029811Free PMC Article
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885

Recent clinical studies

Etiology

Tak Y, Schneider A, Santos E, Randol JL, Tassone F, Hagerman P, Hagerman RJ
Genes (Basel) 2024 Mar 3;15(3) doi: 10.3390/genes15030331. PMID: 38540390Free PMC Article
Tassone F
JAMA Neurol 2014 Mar;71(3):355-9. doi: 10.1001/jamaneurol.2013.4808. PMID: 24395328Free PMC Article
Castrén ML, Castrén E
Neuropharmacology 2014 Jan;76 Pt C:729-36. Epub 2013 May 29 doi: 10.1016/j.neuropharm.2013.05.018. PMID: 23727436
Leehey MA, Hagerman PJ
Handb Clin Neurol 2012;103:373-86. doi: 10.1016/B978-0-444-51892-7.00023-1. PMID: 21827901
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Diagnosis

Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ
Colomb Med (Cali) 2023 Apr-Jun;54(2):e4005089. Epub 2023 May 20 doi: 10.25100/cm.v54i2.5089. PMID: 37664646Free PMC Article
Ciobanu CG, Nucă I, Popescu R, Antoci LM, Caba L, Ivanov AV, Cojocaru KA, Rusu C, Mihai CT, Pânzaru MC
Int J Mol Sci 2023 May 24;24(11) doi: 10.3390/ijms24119206. PMID: 37298158Free PMC Article
Protic DD, Aishworiya R, Salcedo-Arellano MJ, Tang SJ, Milisavljevic J, Mitrovic F, Hagerman RJ, Budimirovic DB
Int J Mol Sci 2022 Feb 9;23(4) doi: 10.3390/ijms23041935. PMID: 35216055Free PMC Article
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ
Nat Rev Dis Primers 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. PMID: 28960184

Therapy

Aran A, Cayam Rand D
Expert Opin Emerg Drugs 2024 Mar;29(1):65-79. Epub 2024 Jan 23 doi: 10.1080/14728214.2024.2306290. PMID: 38226593
Aishworiya R, Valica T, Hagerman R, Restrepo B
Neurotherapeutics 2022 Jan;19(1):248-262. Epub 2022 Jan 14 doi: 10.1007/s13311-022-01183-1. PMID: 35029811Free PMC Article
Jakaria M, Azam S, Haque ME, Jo SH, Uddin MS, Kim IS, Choi DK
Redox Biol 2019 Jun;24:101223. Epub 2019 May 21 doi: 10.1016/j.redox.2019.101223. PMID: 31141786Free PMC Article
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

Prognosis

Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ
Colomb Med (Cali) 2023 Apr-Jun;54(2):e4005089. Epub 2023 May 20 doi: 10.25100/cm.v54i2.5089. PMID: 37664646Free PMC Article
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S
Ital J Pediatr 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. PMID: 28420439Free PMC Article
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Cell 1993 Mar 26;72(6):971-83. doi: 10.1016/0092-8674(93)90585-e. PMID: 8458085

Clinical prediction guides

Rais M, Binder DK, Razak KA, Ethell IM
ASN Neuro 2018 Jan-Dec;10:1759091418801092. doi: 10.1177/1759091418801092. PMID: 30231625Free PMC Article
Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, Zhang J, Li Q, Hagerman RJ
J Child Neurol 2017 Sep;32(10):903-909. Epub 2017 Jun 15 doi: 10.1177/0883073817712875. PMID: 28617074
Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, Blatt E, Sah S, Latham GJ, Hadd AG
Genet Med 2015 May;17(5):358-64. Epub 2014 Sep 11 doi: 10.1038/gim.2014.106. PMID: 25210937
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618
Hagerman RJ, Amiri K, Cronister A
Am J Med Genet 1991 Feb-Mar;38(2-3):283-7. doi: 10.1002/ajmg.1320380223. PMID: 2018072

Recent systematic reviews

Rice LJ, Cannon L, Dadlani N, Cheung MMY, Einfeld SL, Efron D, Dossetor DR, Elliott EJ
Eur Child Adolesc Psychiatry 2024 Feb;33(2):505-526. Epub 2023 Mar 3 doi: 10.1007/s00787-023-02169-w. PMID: 36864363Free PMC Article
Shaffer RC, Reisinger DL, Schmitt LM, Lamy M, Dominick KC, Smith EG, Coffman MC, Esbensen AJ
J Am Acad Child Adolesc Psychiatry 2023 May;62(5):518-557. Epub 2022 Aug 22 doi: 10.1016/j.jaac.2022.06.020. PMID: 36007813
Glasson EJ, Buckley N, Chen W, Leonard H, Epstein A, Skoss R, Jacoby P, Blackmore AM, Bourke J, Downs J
J Am Acad Child Adolesc Psychiatry 2020 Sep;59(9):1036-1048. Epub 2020 Jan 13 doi: 10.1016/j.jaac.2020.01.006. PMID: 31945412
Raspa M, Wheeler AC, Riley C
Pediatrics 2017 Jun;139(Suppl 3):S153-S171. doi: 10.1542/peds.2016-1159C. PMID: 28814537Free PMC Article
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

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