Page 128 - Demo

Chapter 3126References1. Blagojevic C, Heung T, Theriault M, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ Open. Jul-Sep 2021;9(3):E802-e809. doi:10.9778/cmajo.202002942. Butcher NJ, Kiehl TR, Hazrati LN, et al. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinsondisease and its clinical implications. JAMA Neurol. Nov 2013;70(11):1359-66. doi:10.1001/jamaneurol.2013.36463. Mok KY, Sheerin U, Simón-Sánchez J, et al. Deletions at 22q11.2 in idiopathic Parkinson’s disease: a combined analysis of genome-wide association data. Lancet Neurol. May 2016;15(6):585-96. doi:10.1016/s1474-4422(16)00071-54. Boot E, Butcher NJ, Udow S, et al. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology. Jun 5 2018;90(23):e2059-e2067. doi:10.1212/wnl.00000000000056605. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. Mar 2023;25(3):100344. doi:10.1016/j.gim.2022.11.0126. Twelves D, Perkins KS, Counsell C. Systematic review of incidence studies of Parkinson’s disease. Mov Disord. Jan 2003;18(1):19-31. doi:10.1002/mds.103057. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. Nov 19 2015;1:15071. doi:10.1038/nrdp.2015.718. Pringsheim T, Jette N, Frolkis A, Steeves TD. The prevalence of Parkinson’s disease: a systematic review and meta-analysis. Mov Disord. Nov 2014;29(13):1583-90. doi:10.1002/mds.259459. Brakedal B, Toker L, Haugarvoll K, Tzoulis C. A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population. NPJ Parkinsons Dis. Mar 2 2022;8(1):19. doi:10.1038/s41531-022-00280-410. Cerri S, Mus L, Blandini F. Parkinson’s Disease in Women and Men: What’s the Difference? J Parkinsons Dis. 2019;9(3):501-515. doi:10.3233/jpd-19168311. Boot E, Bassett AS, Marras C. 22q11.2 Deletion Syndrome-Associated Parkinson’s Disease. Mov Disord Clin Pract. Jan 2019;6(1):11-16. doi:10.1002/mdc3.1268712. Harrison PJ, Tunbridge EM. Catechol-O-methyltransferase (COMT): a gene contributing to sex differences in brain function, and to sexual dimorphism in the predisposition to psychiatric disorders. Neuropsychopharmacology. Dec 2008;33(13):3037-45. doi:10.1038/sj.npp.130154313. Butcher NJ, Boot E, Lang AE, et al. Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series. Am J Med Genet A. Oct 2018;176(10):2146-2159. doi:10.1002/ajmg.a.3870814. Boot E, Marras C, Bassett AS. Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults. Eur J Hum Genet. Dec 2022;30(12):1314-1317. doi:10.1038/s41431-022-01152-415. Schneider M, Debbané M, Bassett AS, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. Jun 2014;171(6):627-39. doi:10.1176/appi.ajp.2013.1307086416. Bloem BR, Okun MS, Klein C. Parkinson’s disease. Lancet. Jun 12 2021;397(10291):2284-2303. doi:10.1016/s0140-6736(21)00218-x17. Booij J, van Amelsvoort T, Boot E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. Am J Med Genet A. Nov 2010;152a(11):2937-8. doi:10.1002/ajmg.a.3366518. Rafferty MR, Schmidt PN, Luo ST, et al. Regular Exercise, Quality of Life, and Mobility in Parkinson’s Disease: A Longitudinal Analysis of National Parkinson Foundation QualityImprovement Initiative Data. J Parkinsons Dis. 2017;7(1):193-202. doi:10.3233/jpd-160912