Page 108 - Demo

Chapter 2106108. Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I. Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients. J Inherit Metab Dis. 1995;18(5):624-34. doi:10.1007/bf02436009109. Konrad PN, McCarthy DJ, Mauer AM, Valentine WN, Paglia DE. Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. J Pediatr. Mar 1973;82(3):456-60. doi:10.1016/s0022-3476(73)80120-9110. Sakaue S, Kasai T, Mizuta I, et al. Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability toparkinsonism? NPJ Parkinsons Dis. 2017;3:13. doi:10.1038/s41531-017-0014-4111. Virmani T, Rotstein M, Spiegel R, Akman HO, DiMauro S, Greene PE. Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency. Mov Disord Clin Pract. Sep 2014;1(3):240-242. doi:10.1002/mdc3.12055112. 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.2019.04.004113. Rotstein M, Spiegel R, DiMauro S. Juvenile parkinsonism and myopathy caused by a T378P mutation of the phosphoglycerate kinase gene PGK1. Movement Disorders. 2012;27(SUPPL. 1):S69. 16th International Congress of Parkinson’s Disease and Movement Disorders. Dublin Ireland. (var.pagings). doi:http://dx.doi.org/10.1002/mds.25051114. Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S. Myopathy and parkinsonism in phosphoglycerate kinase deficiency. Muscle Nerve. May 2010;41(5):707-10. doi:10.1002/mus.21612115. Echaniz-Laguna A, Nadjar Y, Behin A, et al. Phosphoglycerate kinase deficiency: A nationwidemulticenter retrospective study. J Inherit Metab Dis. Sep 2019;42(5):803-808. doi:10.1002/jimd.12087116. Bandettini di Poggio M, Nesti C, Bruno C, Meschini MC, Schenone A, Santorelli FM. Dopamineagonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. BMC Med Genet. Oct 7 2013;14:105. doi:10.1186/1471-2350-14-105117. De Pue A, Santens P. Late onset ophthalmoplegia and parkinsonism due to a novel POLG mutation. European Journal of Neurology. 2016;23(SUPPL. 2):297. 2nd Congress of the European Academy of Neurology. Copenhagen Denmark. (var.pagings). doi:http://dx.doi.org/10.1111/ene.13092118. Khodadadi H, Azcona LJ, Aghamollaii V, et al. PTRHD1 (C2orf79) mutations lead to autosomalrecessive intellectual disability and parkinsonism. Mov Disord. Feb 2017;32(2):287-291. doi:10.1002/mds.26824119. Jaberi E, Rohani M, Shahidi GA, et al. Mutation in ADORA1 identified as likely cause ofearly-onset parkinsonism and cognitive dysfunction. Mov Disord. Jul 2016;31(7):1004-11. doi:10.1002/mds.26627120. Kuipers DJS, Carr J, Bardien S, et al. PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability. Mov Disord. Nov 2018;33(11):1814-1819. doi:10.1002/mds.27501121. Ortez C, Jou C, Cortes-Saladelafont E, et al. Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. Gene. Dec 15 2013;532(2):302-6. doi:10.1016/j.gene.2013.08.036122. Ciammola A, Carrera P, Di Fonzo A, et al. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. Parkinsonism and Related Disorders. 2017;44:142-146. doi:http://dx.doi.org/10.1016/j.parkreldis.2017.08.021123. Guldner M, Schulte C, Hauser AK, Gasser T, Brockmann K. Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant. Parkinsonism Relat Disord. Oct 2016;31:148-150. doi:10.1016/j.parkreldis.2016.07.005124. Lesage S, Bras J, Cormier-Dequaire F, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. Jun 2015;1(1):e9. doi:10.1212/nxg.0000000000000009