Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability(368 views) Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
Keywords: Atp13a2, Fbxo7, Movement Disorders, Park15, Parkinsonism, Adenosine Triphosphatase, Cadmium, Levodopa, Manganese, Nickel, Selenium, Adult, Article, Brain Atrophy, Brain Cortex Atrophy, Case Report, Clinical Feature, Cognitive Defect, Enzyme Activity, Gene Mutation, Human, Italy, Loss Of Function Mutation, Mini Mental State Examination, Missense Mutation, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Phenotypic Variation, Priority Journal, Pyramidal Sign, Single Photon Emission Computer Tomography, Transcranial Magnetic Stimulation, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Dna Mutational Analysis, F-Box Proteins, Female, Recessive, Heterozygote, Homozygote, Molecular Sequence Data, Mutant Proteins, Parkinsonian Disorders, Pedigree, Proton-Translocating Atpases, Sequence Homology, Emission-Computed, Single-Photon,
Affiliations: *** IBB - CNR ***
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, Rotterdam 3000 CA, Netherlands
Salvatore Maugeri Foundation, IRCCS-Medical Center of Telese Terme, Telese Terme, Italy
Department of Pediatrics, Second University of Naples, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
References: Najim Al-Din, A.S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M., Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome (1994) Acta Neurologica Scandinavica, 89 (5), pp. 347-35
Williams, D.R., Hadeed, A., Najim Al-Din, A.S., Wreikat, A.-L., Lees, A.J., Kufor Rakeb disease: Autosomal recessive, levodopa-responsive Parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia (2005) Movement Disorders, 20 (10), pp. 1264-1271. , DOI 10.1002/mds.20511
Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L.P., Goebel, I., Kubisch, C., Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase (2006) Nature Genetics, 38 (10), pp. 1184-1191. , DOI 10.1038/ng1884, PII NG1884
Di Fonzo, A., Chien, H.F., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, G., Saraiva-Pereira, M.L., ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease (2007) Neurology, 68 (19), pp. 1557-1562. , DOI 10.1212/01.wnl.0000260963.08711.08, PII 0000611420070508000003
Ning, Y.P., Kanai, K., Tomiyama, H., Li, Y., Funayama, M., Yoshino, H., Sato, S., Hattori, N., PARK9-linked parkinsonism in eastern asia: Mutation detection in ATP13A2 and clinical phenotype (2008) Neurology, 70 (PART 2), pp. 1491-1493. , DOI 10.1212/01.wnl.0000310427.72236.68, PII 0000611420080415100020
Schneider, S.A., Paisan-Ruiz, C., Quinn, N.P., ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation (2010) Mov Disord, 25, pp. 979-984. , 10.1002/mds.22947 20310007
Lin, C.H., Tan, E.K., Chen, M.L., Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore (2008) Neurology, 71, pp. 1727-1732. , 1:CAS:528:DC%2BD1cXhtlGls7bN 10.1212/01.wnl.0000335167.72412.68 19015489
Djarmati, A., Hagenah, J., Reetz, K., ATP13A2 variants in early-onset Parkinson's disease patients and controls (2009) Mov Disord, 24, pp. 2104-2111. , 10.1002/mds.22728 19705361
Schultheis, P.J., Hagen, T.T., O'Toole, K.K., Tachibana, A., Burke, C.R., McGill, D.L., Okunade, G.W., Shull, G.E., Characterization of the P5 subfamily of P-type transport ATPases in mice (2004) Biochemical and Biophysical Research Communications, 323 (3), pp. 731-738. , DOI 10.1016/j.bbrc.2004.08.156, PII S0006291X04019436
Gitler, A.D., Chesi, A., Geddie, M.L., Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity (2009) Nat Genet, 41, pp. 308-315. , 1:CAS:528:DC%2BD1MXht1ehsbk%3D 10.1038/ng.300 19182805
Schmidt, K., Wolfe, D.M., Stiller, B., Pearce, D.A., Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2 (2009) Biochem Biophys Res Commun, 383, pp. 198-202. , 1:CAS:528:DC%2BD1MXltFWnur0%3D 10.1016/j.bbrc.2009.03.151 19345671
Shojaee, S., Sina, F., Banihosseini, S.S., Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays (2008) Am J Hum Genet, 82, pp. 1375-1384. , 1:CAS:528:DC%2BD1cXntlWqsLo%3D 10.1016/j.ajhg.2008.05.005 18513678
Di Fonzo, A., Dekker, M.C., Montagna, P., FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome (2009) Neurology, 72, pp. 240-245. , 10.1212/01.wnl.0000338144.10967.2b 19038853
Toyoshima, C., Nakasako, M., Nomura, H., Ogawa, H., Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution (2000) Nature, 405 (6787), pp. 647-655. , DOI 10.1038/35015017
Kirk, R., Laman, H., Knowles, P.P., Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor (2008) J Biol Chem, 283, pp. 22325-22335. , 1:CAS:528:DC%2BD1cXpt1aqsrc%3D 10.1074/jbc.M709900200 18495667
Hsu, J.-M., Lee, Y.-C.G., Yu, C.-T.M., Huang, C.-Y.F., Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region (2004) Journal of Biological Chemistry, 279 (31), pp. 32592-32602. , DOI 10.1074/jbc.M404950200
Chang, Y.F., Cheng, C.M., Chang, L.K., Jong, Y.J., Yuo, C.Y., The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination (2006) Biochem Biophys Res Commun, 342, pp. 1022-1026. , 1:CAS:528:DC%2BD28Xit1ynsLg%3D 10.1016/j.bbrc.2006.02.061 16510124
Cuervo, A.M., Stafanis, L., Fredenburg, R., Lansbury, P.T., Sulzer, D., Impaired degradation of mutant α-synuclein by chaperone-mediated autophagy (2004) Science, 305 (5688), pp. 1292-1295. , DOI 10.1126/science.1101738
Sidransky, E., Nalls, M.A., Aasly, J.O., Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease (2009) N Engl J Med, 361, pp. 1651-1661. , 1:CAS:528:DC%2BD1MXhtlWgs77P 10.1056/NEJMoa0901281 19846850
Pal, P.Kr., Samii, A., Calne, D.B., Manganese neurotoxicity: A review of clinical features, imaging and pathology (1999) NeuroToxicology, 20 (2-3), pp. 227-238
Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M., Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome (1994) Acta Neurologica Scandinavica, 89 (5), pp. 347-35
Williams, D. R., Hadeed, A., Najim Al-Din, A. S., Wreikat, A. -L., Lees, A. J., Kufor Rakeb disease: Autosomal recessive, levodopa-responsive Parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia (2005) Movement Disorders, 20 (10), pp. 1264-1271. , DOI 10. 1002/mds. 20511
Ning, Y. P., Kanai, K., Tomiyama, H., Li, Y., Funayama, M., Yoshino, H., Sato, S., Hattori, N., PARK9-linked parkinsonism in eastern asia: Mutation detection in ATP13A2 and clinical phenotype (2008) Neurology, 70 (PART 2), pp. 1491-1493. , DOI 10. 1212/01. wnl. 0000310427. 72236. 68, PII 0000611420080415100020
Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation (2010) Mov Disord, 25, pp. 979-984. , 10. 1002/mds. 22947 20310007
Lin, C. H., Tan, E. K., Chen, M. L., Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore (2008) Neurology, 71, pp. 1727-1732. , 1: CAS: 528: DC%2BD1cXhtlGls7bN 10. 1212/01. wnl. 0000335167. 72412. 68 19015489
Schultheis, P. J., Hagen, T. T., O'Toole, K. K., Tachibana, A., Burke, C. R., McGill, D. L., Okunade, G. W., Shull, G. E., Characterization of the P5 subfamily of P-type transport ATPases in mice (2004) Biochemical and Biophysical Research Communications, 323 (3), pp. 731-738. , DOI 10. 1016/j. bbrc. 2004. 08. 156, PII S0006291X04019436
Gitler, A. D., Chesi, A., Geddie, M. L., Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity (2009) Nat Genet, 41, pp. 308-315. , 1: CAS: 528: DC%2BD1MXht1ehsbk%3D 10. 1038/ng. 300 19182805
Hsu, J. -M., Lee, Y. -C. G., Yu, C. -T. M., Huang, C. -Y. F., Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region (2004) Journal of Biological Chemistry, 279 (31), pp. 32592-32602. , DOI 10. 1074/jbc. M404950200
Chang, Y. F., Cheng, C. M., Chang, L. K., Jong, Y. J., Yuo, C. Y., The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination (2006) Biochem Biophys Res Commun, 342, pp. 1022-1026. , 1: CAS: 528: DC%2BD28Xit1ynsLg%3D 10. 1016/j. bbrc. 2006. 02. 061 16510124
Cuervo, A. M., Stafanis, L., Fredenburg, R., Lansbury, P. T., Sulzer, D., Impaired degradation of mutant -synuclein by chaperone-mediated autophagy (2004) Science, 305 (5688), pp. 1292-1295. , DOI 10. 1126/science. 1101738
Pal, P. Kr., Samii, A., Calne, D. B., Manganese neurotoxicity: A review of clinical features, imaging and pathology (1999) NeuroToxicology, 20 (2-3), pp. 227-238
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G * The relationship between cerebral vascular disease and parkinsonism: The VADO study(496 views) Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780. Impact Factor:3.274 ViewExport to BibTeXExport to EndNote