Page 107 - Demo

Parkinsonism in GNDs105290. 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.000000000000029891. Martikainen MH, Kytovuori L, Majamaa K. Juvenile parkinsonism, hypogonadism and Leighlike 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.2013.01.01292. 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.2376493. Alkufri F, Harrower T, Rahman Y, et al. Molybdenum cofactor deficiency presenting witha parkinsonism-dystonia syndrome. Mov Disord. Mar 2013;28(3):399-401. doi:10.1002/mds.2527694. 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.2012.07.00995. 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 UnitedStates. (var.pagings). doi:http://dx.doi.org/10.1111/j.1532-5415.2011.03416.x98. 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)80061-7100. 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:10.1159/000496341102. 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.2020.106371103. 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.x104. Garraux G, Caberg JH, Vanbellinghen JF, et al. Partial trisomy 4q associated with youngonset dopa-responsive parkinsonism. Arch Neurol. Mar 2012;69(3):398-400. doi:10.1001/archneurol.2011.802105. 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.2013.09.012106. 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.20146107. 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