Page 112 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
180. Boot E, Mentzel TQ, Palmer LD, et al. Age-Related Parkinsonian Signs in Microdeletion 22q11.2.
Mov Disord. May 9 2020;doi:10.1002/mds.28080
181. 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.38708
182. 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 Parkinson
disease and its clinical implications. JAMA Neurol. Nov 2013;70(11):1359-66. doi:10.1001/
jamaneurol.2013.3646
183. Butcher NJ, Marras C, Pondal M, et al. Neuroimaging and clinical features in adults with
a 22q11.2 deletion at risk of Parkinson’s disease. Brain. May 1 2017;140(5):1371-1383.
doi:10.1093/brain/awx053
184. Dufournet B, Nguyen K, Charles P, et al. Parkinson’s disease associated with 22q11.2 deletion:
Clinical characteristics and response to treatment. Rev Neurol (Paris). Jun 2017;173(6):406-
410. doi:10.1016/j.neurol.2017.03.021
185. Mok KY, Sheerin U, Simon-Sanchez 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)00071-5
186. Nishioka K, Oyama G, Yoshino H, et al. High frequency of beta-propeller protein-associated
neurodegeneration (BPAN) among patients with intellectual disability and young-
onset parkinsonism. Neurobiol Aging. May 2015;36(5):2004.e9-2004.e15. doi:10.1016/j.
neurobiolaging.2015.01.020
187. Morales-Briceno H, Sanchez-Hernandez BE, Meyer E, et al. Beta-propeller-associated
neurodegeneration can present with dominant or isolated parkinsonism. Mov Disord. Apr
2018;33(4):654-656. doi:10.1002/mds.27294
188. Hayflick SJ, Kruer MC, Gregory A, et al. beta-Propeller protein-associated neurodegeneration: a
new X-linked dominant disorder with brain iron accumulation. Brain. Jun 2013;136(Pt 6):1708-
17. doi:10.1093/brain/awt095
189. Ohno T, Kobayashi S, Hayashi M, Sakurai M, Kanazawa I. Diphenylpyraline-responsive
parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients. J
Neurol Sci. Jan 1 2001;182(2):95-7. doi:10.1016/s0022-510x(00)00441-x
190. Olgiati S, Quadri M, Fang M, et al. DNAJC6 Mutations Associated With Early-Onset Parkinson’s
Disease. Ann Neurol. Feb 2016;79(2):244-56. doi:10.1002/ana.24553
191. Clot F, Grabli D, Cazeneuve C, et al. Exhaustive analysis of BH4 and dopamine biosynthesis
genes in patients with Dopa-responsive dystonia. Brain. Jul 2009;132(Pt 7):1753-63.
doi:10.1093/brain/awp084
192. Ng J, Meyer E, Li Y, et al. Expansion of the genotypic and phenotypic spectrum of hereditary
dopamine transporter deficiency syndrome. Journal of Inherited Metabolic Disease. 2012;35(1
SUPPL. 1):S19. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism,
SSIEM 2012. Birmingham United Kingdom. (var.pagings). doi:http://dx.doi.org/10.1007/
s10545-012-9512-z
193. Lai F, Williams RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol.
Aug 1989;46(8):849-53. doi:10.1001/archneur.1989.00520440031017
194. Vieregge P, Ziemens G, Freudenberg M, Piosinski A, Muysers A, Schulze B. Extrapyramidal
features in advanced Down’s syndrome: clinical evaluation and family history. J Neurol
Neurosurg Psychiatry. Jan 1991;54(1):34-8. doi:10.1136/jnnp.54.1.34
195. Fasano A, Borlot F, Lang AE, Andrade DM. Antecollis and levodopa-responsive parkinsonism
are late features of dravet syndrome. Neurology. 2014;82(24):2250-2251. doi:http://dx.doi.
org/10.1212/WNL.0000000000000521
196. Utari A, Adams E, Berry-Kravis E, et al. Aging in fragile X syndrome. J Neurodev Disord. Jun
2010;2(2):70-76. doi:10.1007/s11689-010-9047-2
197. Gitiaux C, Roze E, Kinugawa K, et al. Spectrum of movement disorders associated with glutaric
aciduria type 1: a study of 16 patients. Mov Disord. Dec 15 2008;23(16):2392-7. doi:10.1002/
mds.22313
110