Page 106 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
72. Palat P, Hickey F, Patel L, Sannar E. Levodopa-Responsive Early-Onset Parkinsonism in Down
Syndrome. Case Rep Neurol Med. 2018;2018:2314791. doi:10.1155/2018/2314791
73. Singer C, Sanchez-Ramos J, Weiner WJ. Levodopa-responsive parkinsonism in a patient with
Down’s syndrome. Eur Neurol. 1990;30(5):247-8. doi:10.1159/000117355
74. Storm W. Differential diagnosis and treatment of depressive features in Down’s syndrome: a
case illustration. Res Dev Disabil. 1990;11(2):131-7. doi:10.1016/0891-4222(90)90031-3
75. Sturman SG, Williams AC. Parkinsonism and Down syndrome. Lancet. Oct 14 1989;2(8668):920-
1. doi:10.1016/s0140-6736(89)91581-x
76. Camargos S, Scholz S, Simon-Sanchez J, et al. DYT16, a novel young-onset dystonia-
parkinsonism disorder: identification of a segregating mutation in the stress-response protein
PRKRA. Lancet Neurol. Mar 2008;7(3):207-15. doi:10.1016/s1474-4422(08)70022-x
77. Keogh MJ, Daud D, Pyle A, et al. A novel de novo STXBP1 mutation is associated with
mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics.
2014;16(1):65-67. doi:http://dx.doi.org/10.1007/s10048-014-0431-z
78. Rezazadeh A, Lira V, Silberberg A, et al. Stxbp1 is associated with bruxism in awake patients.
Neurology. 2019;92(15 Supplement 1)71st Annual Meeting of the American Academy of
Neurology, AAN 2019. United States.
79. Yildiz EP, Yesil G, Ozkan MU, Bektas G, Caliskan M, Ozmen M. A novel EPM2A mutation in
a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.
Seizure. Oct 2017;51:77-79. doi:10.1016/j.seizure.2017.07.011
80. Hall D, Pickler L, Riley K, Tassone F, Hagerman R. Parkinsonism and cognitive decline in a
fragile X mosaic male. Mov Disord. Jul 30 2010;25(10):1523-4. doi:10.1002/mds.23150
81. Rosario M, Moldovan O, Reimao S, et al. Juvenile parkinsonism associated with a novel
HSD17B10 mutation in a patient with HSD10 disease. Movement Disorders. 2018;33(Supplement
2):S218. 22nd International Congress of Parkinson’s Disease and Movement Disorders, MDS
2018. Hong Kong.
82. Chen JY, Oza VS, Gopi R, Christine CW. Rapidly progressive Parkinsonism in a patient with
incontinentia pigmenti. Movement Disorders. 2015;30(SUPPL. 1):S476-S477. 19th International
Congress of Parkinson’s Disease and Movement Disorders. San Diego, CA United States. (var.
pagings). doi:http://dx.doi.org/10.1002/mds.26295
83. Bach JP, Sommer N, Moller JC, Oertel WH, Dodel R, Gasser T. Parkinson’s syndrome in a
young patient with Klinefelter’s syndrome--a case report. Mov Disord. Apr 15 2008;23(5):771-2.
doi:10.1002/mds.21948
84. Lee KS, Lee JE, Cho AH, Kim JS, Oh YS. A case of Parkinson’s disease in a patient with
Klinefelter’s syndrome. Acta Neurologica Belgica. 2019;doi:http://dx.doi.org/10.1007/s13760-
019-01232-1
85. Yu W, He Y, Liu Y. Combined Klinefelter syndrome and hereditary early-onset Parkinson’s
disease: A case report. Movement Disorders Clinical Practice. 2019;6(Supplement 1):S82. 6th
Asian and Oceanian Parkinson’s Disease and Movement Disorders Congress. China. doi:http://
dx.doi.org/10.1002/mdc3.12744
86. Fabbri M, Zibetti M, Martone T, Lopiano L. Expanding the spectrum of movement disorders in
Klinefelter syndrome. Neurol Sci. Jul 2018;39(7):1303-1304. doi:10.1007/s10072-018-3296-3
87. Owens WE, Okun MS. Dystonia, tremor, and parkinsonism in a 54 year old man with
2-hydroxyglutaric aciduria. J Neurol Neurosurg Psychiatry. Sep 2004;75(9):1362-3. doi:10.1136/
jnnp.2003.033571
88. Martikainen MH, Ng YS, Gorman GS, et al. Clinical, genetic, and radiological features
of extrapyramidal movement disorders in mitochondrial disease. JAMA Neurology.
2016;73(6):668-674. doi:http://dx.doi.org/10.1001/jamaneurol.2016.0355
89. Baumgartner A, Nia S, Erdler M, et al. A novel heteroplasmic mutation in the mitochondrial
ATP6 gene associated with Parkinson’s syndrome and epilepsy. Journal of the Neurological
Sciences. 2013;333(SUPPL. 1):e706. 21st World Congress of Neurology. Vienna Austria.
(var.pagings). doi:http://dx.doi.org/10.1016/j.jns.2013.07.2437
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