Page 129 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
P. 129
Parkinson’s disease in 22q11.2DS
19. Boulos C, Yaghi N, El Hayeck R, Heraoui GN, Fakhoury-Sayegh N. Nutritional Risk Factors,
Microbiota and Parkinson’s Disease: What Is the Current Evidence? Nutrients. Aug 14
2019;11(8)doi:10.3390/nu11081896
20. Giladi N, Mirelman A, Thaler A, Bar-Shira A, Gurevich T, Orr-Urtreger A. Fighting the risk of
developing Parkinson’s disease; clinical counseling for first degree relatives of patients with
Parkinson’s disease. J Neurol Sci. Nov 15 2011;310(1-2):17-20. doi:10.1016/j.jns.2011.06.005
21. Mulhern M, Bier L, Alcalay RN, Balwani M. Patients’ Opinions on Genetic Counseling on the
Increased Risk of Parkinson Disease among Gaucher Disease Carriers. J Genet Couns. Jun
2018;27(3):675-680. doi:10.1007/s10897-017-0161-0
22. Tsou AY, Bulova P, Capone G, et al. Medical Care of Adults With Down Syndrome: A Clinical
Guideline. JAMA. 2020;324(15):1543-1556. doi:10.1001/jama.2020.17024
23. Poewe W, Seppi K, Tanner CM, et al. Parkinson disease. Nat Rev Dis Primers. Mar 23
2017;3:17013. doi:10.1038/nrdp.2017.13
24. Moberg PJ, Turetsky BI, Moberg EA, et al. Meta-analysis of olfactory dysfunction in
22q11.2 deletion syndrome. Psychiatry Res. Jan 16 2020;285:112783. doi:10.1016/j.
psychres.2020.112783
25. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion
Syndrome. Am J Med Genet A. Nov 1 2005;138(4):307-13. doi:10.1002/ajmg.a.30984
26. Buckley E, Siddique A, McNeill A. Hyposmia, symptoms of rapid eye movement sleep behavior
disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion
syndrome. Neuroreport. Aug 2 2017;28(11):677-681. doi:10.1097/wnr.0000000000000815
27. Mauro J, Diaz M, Córdova T, et al. Analysis of REM sleep without atonia in 22q11.2 deletion
syndrome determined by domiciliary polysomnography: a cross sectional study. Sleep.
2022;45(2):zsab300. doi:10.1093/sleep/zsab300
28. Nalls MA, Blauwendraat C, Vallerga CL, et al. Identification of novel risk loci, causal insights, and
heritable risk for Parkinson’s disease: a meta-analysis of genome-wide association studies.
The Lancet Neurology. 2019/12/01/ 2019;18(12):1091-1102. doi:https://doi.org/10.1016/
S1474-4422(19)30320-5
29. Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson’s disease.
Lancet Neurol. Feb 2020;19(2):170-178. doi:10.1016/s1474-4422(19)30287-x
30. Ross OA, Braithwaite AT, Skipper LM, et al. Genomic investigation of alpha-synuclein
multiplication and parkinsonism. Ann Neurol. Jun 2008;63(6):743-50. doi:10.1002/ana.21380
31. von Scheibler E, van Eeghen AM, de Koning TJ, et al. Parkinsonism in Genetic Neurodevelopmental
Disorders: A Systematic Review. Mov Disord Clin Pract. Jan 2023;10(1):17-31. doi:10.1002/
mdc3.13577
32. Chia SJ, Tan EK, Chao YX. Historical Perspective: Models of Parkinson’s Disease. Int J Mol Sci.
Apr 2 2020;21(7)doi:10.3390/ijms21072464
33. Sumitomo A, Horike K, Hirai K, et al. A mouse model of 22q11.2 deletions: Molecular
and behavioral signatures of Parkinson’s disease and schizophrenia. Sci Adv. Aug
2018;4(8):eaar6637. doi:10.1126/sciadv.aar6637
34. Hirsch L, Jette N, Frolkis A, Steeves T, Pringsheim T. The Incidence of Parkinson’s Disease:
A Systematic Review and Meta-Analysis. Neuroepidemiology. 2016;46(4):292-300.
doi:10.1159/000445751
3
127
