Menkes disease and infantile epilepsy

Brain and Development

Volumn 33, Issue 10, 2011, Pages 866-876

  Prasad, Asuri N ^a,b   Levin, Simon ^a,b   Rupar, C Anthony ^a,b   Prasad, Chitra ^a,b  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b LONDON HEALTH SCIENCES CENTRE   (Canada)

Author keywords

ATP7A; Copper supplementation; Cupric chloride; Epilepsy; Epileptogenesis; Lactic acidosis; Menkes

Indexed keywords

ASCORBIC ACID; CLONAZEPAM; COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; CUPRIC CHLORIDE; CYTOCHROME C OXIDASE; DOPAMINE BETA MONOOXYGENASE; ETIRACETAM; LORAZEPAM; MIDAZOLAM; MYELIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; PHENOBARBITAL; PYRIDOXINE; RIBOFLAVIN; THIAMINE; TOPIRAMATE; UBIDECARENONE; VIGABATRIN;

AEROBIC METABOLISM; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL ASSESSMENT; CLINICAL FEATURE; DEGENERATIVE DISEASE; ELECTROENCEPHALOGRAPHY; ENERGY METABOLISM; EPILEPTOGENESIS; FOCAL EPILEPSY; GASTROSTOMY; GENE CONTROL; GENE MUTATION; HUMAN; IMMUNE RESPONSE; INFANT; INFANTILE SPASM; LACTIC ACIDOSIS; LONGITUDINAL STUDY; MALE; MENKES SYNDROME; MICROARRAY ANALYSIS; MYOCLONUS; NERVE EXCITABILITY; NERVE FIBER; NEUROTRANSMISSION; OXIDATIVE STRESS; PHYSICAL EXAMINATION; REVIEW; SIGNAL TRANSDUCTION; TONIC SEIZURE;

ADENOSINE TRIPHOSPHATASES; BRAIN; CATION TRANSPORT PROTEINS; COPPER; DOPAMINE BETA-HYDROXYLASE; ELECTROENCEPHALOGRAPHY; ELECTRON TRANSPORT COMPLEX IV; EPILEPSY; HUMANS; INFANT; LONGITUDINAL STUDIES; MAGNETIC RESONANCE ANGIOGRAPHY; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENKES KINKY HAIR SYNDROME; MUTATION;

EID: 80755132307     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.08.002     Document Type: Review

References (51)

1. Menkes J.H., Alter M., Steigleder G.K., Weakley D.R., Sung J.H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962, 29:764-779.
2. Kaler S.G. ATP7A-related copper transport diseases: emerging concepts and future trends. Nat Rev Neurol 2010, 7:15-29.
3. O'Brien J.S., Sampson E.L. Kinky hair disease II. Biochemical studies. J Neuropathol Exp Neurol 1966, 25:523-530.
4. French J.H., Sherard E.S., Lubell H., Brotz M., Moore C.L. Trichopoliodystrophy I. Report of a case and biochemical studies. Arch Neurol 1972, 26:229-244.
5. Danks D.M., Campbell P.E., Walker-Smith J., Stevens B.J., Gillespie J.M., Blomfield J., et al. Menkes' kinky-hair syndrome. Lancet 1972, 1:1100-1102.
6. Kapur S., Higgins J.V., Delp K., Rogers B. Menkes syndrome in a girl with X-autosome translocation. Am J Med Genet 1987, 26:503-510.
7. Verga V., Hall B.K., Wang S.R., Johnson S., Higgins J.V., Glover T.W. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am J Hum Genet 1991, 48:1133-1138.
8. Chelly J., Tümer Z., Tønnesen T., Petterson A., Ishikawa-Brush Y., Tommerup N., et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993, 3:14-19.
9. Mercer J.F., Livingston J., Hall B., Paynter J.A., Begy C., Chandrasekharappa S., et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 1993, 3:20-25.
10. Dierick H.A., Adam A.N., Escara-Wilke J.F., Glover T.W. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum Mol Genet 1997, 6:409-416.
11. Møller L.B., Mogensen M., Horn N. Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie 2009, 91:1273-1277.
12. Hsi G., Cox D.W. A comparison of the mutation spectra of Menkes disease and Wilson disease. Hum Genet 2004, 114:165-172.
13. Pena M.M., Lee J., Thiele D.J. A delicate balance: homeostatic control of copper uptake and distribution. J Nutr 1999, 129:1251-1260.
14. Schaefer M., Gitlin J.D. Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Am J Physiol 1999, 276:G311-4.
15. Keydorn K., Damsgaard E., Horn N., Mikkelsen M., Tygstrup I., Vestemark S., et al. Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease. Humangenetik 1975, 29:171-175.
16. Williams D.M., Atkin C.L. Tissue copper concentrations of patients with Menke's kinky hair disease. Am J Dis Child 1981, 135:375-376.
17. Camakaris J., Petris M.J., Bailey L., Shen P., Lockhart P., Glover T.W., et al. Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. Hum Mol Genet 1995, 4:2117-2123.
18. Petris M.J., Mercer J.F., Camakaris J. The cell biology of the Menkes disease protein. Adv Exp Med Biol 1999, 448:53-66.
19. Lalioti V., Muruais G., Tsuchiya Y., Pulido D., Sandoval I.V. Molecular mechanisms of copper homeostasis. Front Biosci 2009, 14:4878-4903.
20. Kaler S.G. ATP7A-related copper transport diseases-emerging concepts and future trends. Nature Rev Neurol 2011, 7:15-29.
21. Kaler S.G., Gallo L.K., Proud V.K., Percy A.K., Mark Y., Segal N.A., et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 1994, 8:195-202.
22. Donsante A., Tang J., Godwin S.C., Holmes C.S., Goldstein D.S., Bassuk A., et al. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet 2007, 44:492-497.
23. Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 18:511-8.
24. Tümer Z., Møller L.B., Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat 2003, 22:457-464.
25. Tümer Z., Lund C., Tolshave J., Vural B., Tønnesen T., Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 1997, 60:63-71.
26. Ogawa A., Yamamoto S., Takayanagi M., Kogo T., Kanazawa M., Kohno Y. Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. J Hum Genet 1999, 44:206-209.
27. Barnard R.O., Best P.V., Erdohazi M. Neuropathology of Menkes' disease. Dev Med Child Neurol 1978, 20:586-597.
28. Okeda R., Gei S., Chen I., Okaniwa M., Shinomiya M., Matsubara O. Menkes' kinky hair disease: morphological and immunohistochemical comparison of two autopsied patients. Acta Neuropathol 1991, 81:450-457.
29. Morgello S., Peterson H.D., Kahn L.J., Laufer H. Menkes kinky hair disease with 'ragged red' fibers. Dev Med Child Neurol 1988, 30:812-816.
30. Friedman E., Harden A., Koivikko M., Pampiglione G. Menkes' disease: neurophysiological aspects. J Neurol, Neurosurg Psychiatry 1978, 41:505-510.
31. White S.R., Reese K., Sato S., Kaler S.G. Spectrum of EEG findings in Menkes disease. Electroencephalogr Clin Neurophysiol 1993, 87:57-61.
32. Bahi-Buisson N., Kaminska A., Nabbout R., Barnerias C., Desguerre I., De Lonlay P., et al. Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia 2006, 47:380-386.
33. Kaler S.G., Liew C.J., Donsante A., Hicks J.D., Sato S., Greenfield J.C. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. J Inherit Metab Dis 2010, 33:583-589.
34. Bindu P.S., Sinha S., Taly A.B., Kovur J.M., Gayathri N., Arunodaya G.R. Menkes syndrome presenting as myoclonic seizures: neuroimaging and EEG observations. J Child Neurol 2007, 22:452-455.
35. Sfaello I., Castelnau P., Blanc N., Ogier H., Evrard P., Arzimanoglou A. Infantile spasms and Menkes disease. Epileptic Disord 2000, 2:227-230.
36. Choi B.S., Zheng W. Copper transport to the brain by the blood-brain barrier and blood-CSF barrier. Brain Res 2009, 1248:14-21.
37. Liu P.C., Chen Y.W., Centeno J.A., Quezado M., Lem K., Kaler S.G. Downregulation of myelination, energy, and translational genes in Menkes disease brain. Mol Genet Metab 2005, 85:291-300.
38. Kaler S.G., Gahl W.A., Berry S.A., Holmes C.S., Goldstein D.S. Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. J Inherit Metab Dis 1993, 16:907-908.
39. Kaler S.G., Holmes C.S., Goldstein D.S. Dopamine β-hydroxylase deficiency associated with mutations in a copper transporter gene. Adv Pharmacol 1998, 42:66-68.
40. Kaler S.G., Holmes C.S., Goldstein D.S., Tang J., Godwin S.C., Donsante A., et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008, 358:605-614.
41. Kunz W.S. The role of mitochondria in epileptogenesis. Curr Opin Neurol 2002, 15:179-184.
42. Rizzo C., Bertini E., Piemonte F., Leuzzi V., Sabetta G., Federici G., et al. Oxidative abnormalities in Menkes disease. J Inherit Metab Dis 2000, 23:349-351.
43. Pan J.W., Williamson A., Cavus I., Hetherington H.P., Zaveri H., Petroff O.A.C., et al. Neurometabolism in human epilepsy. Epilepsia 2008, 49(Suppl. 3):31-41.
44. Schlief M.L., Craig A.M., Gitlin J.D. NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci 2005, 25:239-246.
45. Schlief M.L., Gitlin J.D. Copper homeostasis in the CNS: a novel link between the NMDA receptor and copper homeostasis in the hippocampus. Mol Neurobiol 2006, 33:81-90.
46. Schlief M.L., West T., Craig A.M., Holtzman D.M., Gitlin J.D. Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity. Proc Natl Acad Sci USA 2006, 103:14919-14924.
47. Kaler S.G., Das S., Levinson B., Goldstein D.S., Holmes C.S., Patronas N.J., et al. Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletion. Biochem Mol Med 1996, 57:37-46.
48. Kaler S.G. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr 1998, 67:34S-1029S.
49. Christodoulou J., Danks D.M., Sarkar B., Baerlocher K.E., Casey R., Horn N., et al. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998, 76:154-164.
50. Sarkar B., Lingertat-Walsh K., Clarke J.T. Copper-histidine therapy for Menkes disease. J Pediatr 1993, 123:828-830.
51. Kaler S.G., Buist N.R., Holmes C.S., Goldstein D.S., Miller R.C., Gahl W.A. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol 1995, 38:921-928.