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References and Further Reading
Athreya BH, Schumacher HR, Getz HD, Norman ME, Borden S, Witzleben CL. Arthropathy of Lowe’s (oculocerebrorenal) syndrome. Arthritis Rheum 1983; 26: 728–735
Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe’s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992; 358: 239–242
Carroll WJ, Woodruff WW, Cadman TE. MR findings in oculocerebrorenal syndrome. AJNR Am J Neuroradiol 1993; 14: 449–451
Charnas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Adv Pediatr 1991; 38: 75–107
Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA. MRI findings and peripheral neuropathy in Lowe’s syndrome. Neuropediatrics 1988; 19: 7–9
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med 1991; 324: 1318–1325
Cibis GW, Waeltermann JM, Whitcraft CT, Tripathi RC, Harris DJ. Lenticular opacities in carriers of Lowe’s syndrome. J Ophthalmol 1986; 93: 1041–1045
De Camilli P, Emr SD, McPherson PS, Novick P. Phosphoinositides as regulators in membrane traffic. Science 1996; 271: 1533–1539
Demmer LA, Wippold FJ, Dowton SB. Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. Pediatr Radiol 1992; 22: 76–77
Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P2 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem 2000; 48: 179–189
Fivush BA, Rausen C, Christenson MJ, Olson JL. Acute tubular necrosis associated with Lowe’s syndrome: possible role of rhabdomyolysis. Am J Kidney Dis 1992; 20: 396–399
Garzuly F, Jellinger K, Szabo L, Toth K. Morbid changes in Lowe’s oculo-cerebro-renal syndrome. Neuropediatrics 1973; 4: 304–313
Giannakopoulos P, Bouras C, Vallet P, Constantinidis J. Lowe syndrome: clinical and neuropathological studies of an adult case. J Ment Defic Res 1990; 34: 491–500
Irvine R. Second messengers and Lowe syndrome. Nat Genet 1992; 1: 315–316
Kenworthy L, Park T, Charnas LR. Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. Am J Med Genet 1993; 46: 297–303
Kohyama J, Niimura F, Kawashima K, Iwakawa Y, Nonaka I. Congenital fiber type disproportion myopathy in Lowe syndrome. Pediatr Neurol 1989; 5: 373–376
Lin T, Orrison BM, Leahey A-M, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 1997; 60: 1384–1388
Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab 1998; 64: 58–61
Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat 2000; 16: 157–165
Mueller OT, Hartsfield JK, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am J Hum Genet 1991; 49: 804–810
Nielsen KF, Steffensen GK. Congenital nephritic syndrome associated with Lowe’s syndrome. Child Nephrol Urol 1990; 10: 92–95
Olivos-Glander IM, Jänne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized tot the Golgi complex. Am J Hum Genet 1995; 57: 817–823
Ono J, Harada K, Mano T, Yamamoto T, Okada S. MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. Pediatr Neurol 1996; 14: 162–164
O’Tuama LA, Laster DW. Oculocerebrorenal syndrome: case report with CT and MR correlates. AJNR Am J Neuroradiol 1987; 8: 555–557
Pueschel SM, Brem AS, Nittoli P. Central nervous system and renal investigations in patients with Lowe syndrome. Childs Nerv Syst 1992; 8: 45–48
Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk P-S, Lopex-Pajares I, Megabarne A, Philipe HJ, Plauchu H, Torres ML, Lunardi J. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet 1999; 65: 68–76
Savolaine ER, Bielke DJ. Cranial magnetic resonance imaging in Lowe’s syndrome. Clin Imaging 1993; 17: 133–136
Schneider JF, Boltshauser E, Neuhaus TJ, Rauscher C, Martin E. MRI and proton spectroscopy in Lowe syndrome. Neuropediatrics 2001; 32: 45–48
Shields D, Arvan P. Disease models provide insight into post-Golgi protein trafficking, localization and processing. Curr Opin Cell Biol 1999; 11: 489–494
Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet 2002; 71: 1420–1427
Suchy SF, Olivos-Glander IM, Nussbaum RL. Lowe syndrome, a deficiency of a phosphatidyl-inositol 4,5-biphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995; 4: 2245–2250
Terslev E. Two cases of aminoaciduria, ocular changes and retarded mental and somatic development (Lowe’s syndrome). Acta Paediatr Scand 1960; 49: 635–644
Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe’s syndrome. J Ophthalmol 1986; 93: 1046–1051
Zhang X, Majerus PW. Phosphatidylinositol signaling reactions. Semin Cell Dev Biol 1998; 9: 153–160
Zhang X, Jefferson AB, Auethavekiat V, Majerus PW. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-biphosphate 5-phosphatase. Proc Natl Acad Sci 1995; 92: 4853–4856
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(2005). Lowe Syndrome. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_51
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DOI: https://doi.org/10.1007/3-540-27660-2_51
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