Page 56 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
P. 56

Chapter 2
77. Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, et al. Mouse model for molybdenum
cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor
deficient patients. Hum Genet. Jul 2016;135(7):813-26. doi:10.1007/s00439-016-1676-4
78. Garraux G, Caberg JH, Vanbellinghen JF, et al. Partial trisomy 4q associated with young-
onset dopa-responsive parkinsonism. Arch Neurol. Mar 2012;69(3):398-400. doi:10.1001/
archneurol.2011.802
79. Morales-Briceno H, Ha AD, London K, Farlow D, Chang FCF, Fung VSC. Parkinsonism in PGK1
deficiency implicates the glycolytic pathway in nigrostriatal dysfunction. Parkinsonism Relat
Disord. Jul 2019;64:319-323. doi:10.1016/j.parkreldis.2019.04.004
80. Shakkottai VG, Xiao M, Xu L, et al. FGF14 regulates the intrinsic excitability of cerebellar
Purkinje neurons. Neurobiol Dis. Jan 2009;33(1):81-8. doi:10.1016/j.nbd.2008.09.019
81. Poisson A, Nicolas A, Bousquet I, Raverot V, Gronfier C, Demily C. Smith-Magenis Syndrome:
Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder. Int J Mol Sci. Jul
19 2019;20(14)doi:10.3390/ijms20143533
82. 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
83. 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
84. Fernandez HH, Friedman JH, Famiglietti EV. Probable Cornelia de Lange syndrome with
progressive parkinsonism and dystonia. Mov Disord. Jul 2000;15(4):749-51. doi:10.1002/1531-
8257(200007)15:4<749::aid-mds1028>3.0.co;2-p
85. Straniero L, Guella I, Cilia R, et al. DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Ann Neurol. Oct 2017;82(4):640-646. doi:10.1002/ana.25048
86. Bodhireddy S, Dickson DW, Mattiace L, Weidenheim KM. A case of Down’s syndrome with
diffuse Lewy body disease and Alzheimer’s disease. Neurology. Jan 1994;44(1):159-61.
doi:10.1212/wnl.44.1.159
87. Marui W, Iseki E, Kosaka K, Kato M, Adachi Y, Ueda K. An autopsied case of Down syndrome with
Alzheimer pathology and alpha-synuclein immunoreactivity. Neuropathology. 1999;19(4):410-
416. doi:http://dx.doi.org/10.1046/j.1440-1789.1999.00265.x
88. Clayton PT, Smith I, Harding B. Subacute combined degeneration of the cord, dementia and
Parkinsonism due to an inborn error of folate metabolism. Journal of Neurology Neurosurgery
and Psychiatry. 1986;49(8):920-927.
89. Sleiman PM, Healy DG, Muqit MM, et al. Characterisation of a novel NR4A2 mutation
in Parkinson’s disease brain. Neurosci Lett. Jun 26 2009;457(2):75-9. doi:10.1016/j.
neulet.2009.03.021
90. Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial
DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet. Sep 4-10
2004;364(9437):875-82. doi:10.1016/s0140-6736(04)16983-3
91. Kim CY, Wirth T, Hubsch C, et al. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D
p.E200K Mutation. Ann Neurol. Nov 2020;88(5):1028-1033. doi:10.1002/ana.25863
92. Wilson GR, Sim JC, McLean C, et al. Mutations in RAB39B cause X-linked intellectual disability
and early-onset Parkinson disease with alpha-synuclein pathology. Am J Hum Genet. Dec 4
2014;95(6):729-35. doi:10.1016/j.ajhg.2014.10.015
93. Scheifes A, Walraven S, Stolker JJ, et al. Movement Disorders in Adults With Intellectual Disability
and Behavioral Problems Associated With Use of Antipsychotics. J Clin Psychopharmacol. Aug
2016;36(4):308-13. doi:10.1097/jcp.0000000000000528
94. 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.0000000000005660
95. Carvalho V, Ferreira JJ, Correia Guedes L. Tremor and Parkinsonism in Chromosomopathies -
A Systematic Review. Mov Disord. Sep 2021;36(9):2017-2025. doi:10.1002/mds.28663
54











































   54   55   56   57   58