Page 107 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
P. 107
Parkinsonism in GNDs
90. Hemelsoet DM, Vanlander AV, Smet J, et al. Leigh syndrome followed by parkinsonism in an
adult with homozygous c.626C>T mutation in MTFMT. Neurology: Genetics. 2018;4(6):e298.
doi:http://dx.doi.org/10.1212/NXG.0000000000000298
91. Martikainen MH, Kytovuori L, Majamaa K. Juvenile parkinsonism, hypogonadism and Leigh-
like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA. Mitochondrion.
Mar 2013;13(2):83-6. doi:10.1016/j.mito.2013.01.012
92. Zyss J, Vlaicu M, Gerber S, Rodallec M, Gauthier C, Zuber M. Movement disorders in mevalonic
aciduria. Movement Disorders. 2011;26(SUPPL. 2):S256. 15th International Congress of
Parkinson’s Disease and Movement Disorders. Toronto, ON Canada. (var.pagings). doi:http://
dx.doi.org/10.1002/mds.23764
93. Alkufri F, Harrower T, Rahman Y, et al. Molybdenum cofactor deficiency presenting with
a parkinsonism-dystonia syndrome. Mov Disord. Mar 2013;28(3):399-401. doi:10.1002/
mds.25276
94. Hara M, Inokuchi T, Taniwaki T, et al. An adult patient with mucolipidosis III alpha/beta presenting
with parkinsonism. Brain Dev. May 2013;35(5):462-5. doi:10.1016/j.braindev.2012.07.009
95. Choi J, Lee J, Kim H, Jeon B. A patient with myotonic dystrophy type 1 and parkinsonism.
Movement Disorders. 2018;33(Supplement 2):S803-S804. 22nd International Congress of
Parkinson’s Disease and Movement Disorders, MDS 2018. Hong Kong.
96. Pradotto L, Mencarelli M, Di Blasio AM, Mauro A. Co-occurrence of Parkinson’s disease and
neurofibromatosis: A casual association or an underlying unique genetic cause? Clinical
Neuropathology. 2014;33(3):232. Joint Meeting 50th Congress of the Italian Association of
Neuropathology and Clinical Neurobiology, AINPeNC - 40th Congress of the Italian Association
for Research on Brain Aging, AIRIC. Verbania Italy. (var.pagings).
97. Wattanapanom P, May C, Jain R. Weight loss as an atypical presentation of pheochromocytoma
in an older man. Journal of the American Geriatrics Society. 2011;59(SUPPL. 1):S117. 2011
Annual Scientific Meeting of the American Geriatrics Society. National Harbor, MD United
States. (var.pagings). doi:http://dx.doi.org/10.1111/j.1532-5415.2011.03416.x
98. D’Ambrosio G, Vizioli R. Recklinghausen disease and Parkinson disease: an unusual
association. Acta Neurol (Napoli). Aug 1984;6(4):274-9.
99. Hattori S, Kiguchi H, Ishii T, Nakajima T, Yatsuzuka H. Moyamoya disease with concurrent
von Recklinghausen’s disease and cerebral arteriovenous malformation. Pathol Res Pract.
1998;194(5):363-9. doi:10.1016/s0344-0338(98)80061-7
100. Chandra S, Rao K, Ghosh A, Ray J, Northrup H, Stimming E. Parkinsonism in Christianson
syndrome: A unique presentation of a unique syndrome. Movement Disorders.
2018;33(Supplement 2):S219. 22nd International Congress of Parkinson’s Disease and
Movement Disorders, MDS 2018. Hong Kong.
101. Pescosolido MF, Kavanaugh BC, Pochet N, et al. Complex Neurological Phenotype
in Female Carriers of NHE6 Mutations. Mol Neuropsychiatry. Apr 2019;5(2):98-108.
doi:10.1159/000496341
102. Araki K, Nakamura R, Ito D, et al. NUS1 mutation in a family with epilepsy, cerebellar ataxia, and
tremor. Epilepsy Res. May 22 2020;164:106371. doi:10.1016/j.eplepsyres.2020.106371
103. Namihira T, Hattori N, Shiroma S, Miyazato Y. Autosomal recessive juvenile Parkinson’s disease
with partial trisomy of chromosome 6q syndrome: a case report. Psychiatry Clin Neurosci. Dec
2004;58(6):672-3. doi:10.1111/j.1440-1819.2004.01321.x
104. 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
105. Daelman L, Sedel F, Tourbah A. Progressive neuropsychiatric manifestations of phenylketonuria
in adulthood. Rev Neurol (Paris). Apr 2014;170(4):280-7. doi:10.1016/j.neurol.2013.09.012
106. Evans AH, Costa DC, Gacinovic S, et al. L-Dopa-responsive Parkinson’s syndrome in association
with phenylketonuria: In vivo dopamine transporter and D2 receptor findings. Mov Disord. Oct
2004;19(10):1232-6. doi:10.1002/mds.20146
107. Velema M, Boot E, Engelen M, Hollak C. Parkinsonism in phenylketonuria: a consequence of
dopamine depletion? JIMD Rep. 2015;20:35-8. doi:10.1007/8904_2014_386
2
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