Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease

Current Opinion in Molecular Therapeutics

Volumn 1, Issue 4, 1999, Pages 487-492

  Leone, Paola ^a   Janson, Christopher G ^a   McPhee, Scott J ^a   During, Matthew J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; AMIDASE; ANTICONVULSIVE AGENT; ANXIOLYTIC AGENT; ASPARTOACYLASE; CALCIUM ACETATE; DIURETIC AGENT; LIPOSOME; N ACETYLASPARTIC ACID; RECOMBINANT ENZYME; UNCLASSIFIED DRUG; VIRUS VECTOR;

CANAVAN DISEASE; CLINICAL FEATURE; DIET THERAPY; GENE TARGETING; GENE THERAPY; HUMAN; NEUROPATHOLOGY; PHYSIOTHERAPY; PRENATAL DIAGNOSIS; REVIEW;

ACETATES; ACETAZOLAMIDE; AMIDOHYDROLASES; ANIMALS; ASPARTIC ACID; BRAIN; BRAIN EDEMA; CANAVAN DISEASE; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; COMBINED MODALITY THERAPY; CYTOMEGALOVIRUS; DEPENDOVIRUS; DNA, RECOMBINANT; FEMALE; FETAL DISEASES; GENE THERAPY; GENETIC VECTORS; GLYCEROPHOSPHOLIPIDS; HUMANS; INFANT; INJECTIONS, INTRAVENTRICULAR; LIPOSOMES; MALE; MITOCHONDRIA; NERVE TISSUE PROTEINS; OSMOTIC PRESSURE; PHOSPHATIDYLETHANOLAMINES; PRENATAL DIAGNOSIS; PRIMATES; PROMOTER REGIONS (GENETICS); PROTAMINES; RATS;

ADENO-ASSOCIATED VIRUS;

EID: 0032824161     PISSN: 14648431     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (29)

1. Prineas JW, McDonald WI: Demyelinating diseases. In: Greenfield's Neuropathology (Vol 1). Graham DI, Lantos PL (Eds), Arnold, London (1997):853.
2. Canavan MM: Schilder's encephalitis periaxialis diffusa. Arch Neurol Psychiatry (1931) 25:299-308.
3. Van Bogaert L, Bertrand I: Spongy degeneration of the brain in infancy. Charles C Thomas, Amsterdam (1967).
4. Van Bogaert L, Bertrand I: Sur une idiote familiale avec degenerescence sponglieuse de neuraxe (note preliminaire). Acta Neurol Belg (1949) 49:572-587.
5. Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet (1988) 29:463-471.
6. Matalon R, Kaul R, Michals K: Canavan disease: biochemical and molecular studies. Inherit Metab Dis (1993) 16(4):744-752.
7. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D: Neurological manifestations of organic acid disorders. European J Ped (1994) 153:S94-100.
8. Traeger EC, Rapin I: The clinical course of Canavan disease. Ped Neurol (1998) 18:207-212.
9. Adachi M, Schneck L, Cara J, Volk BW: Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). Hum Pathol (1973) 4:331-347.
10. Gambetti P, Mellman WJ, Gonatas NK: Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease). An ultrastructural study. Acta Neuropathol (Berl) (1969) 12:103-115.
11. Adomato BT, O'Brien JS, Lampert PW, Roe TF, Neustein HB: Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins. Neurology (1972) 22:202-210.
12. Sacks O, Brown WJ, Aguilar MJ: Spongy degeneration of white matter: Canavan's sclerosis. Neurology (1965) 15:2165-2171.
13. Baslow MH: The existence of molecular water pumps in the nervous system: A review of the evidence. Neurochemistry International (1999):77-90.
14. Mehta V, Namboodiri MA: N-acetylaspartate as an acetyl source in the nervous system. Brain Res Mol Brain Res (1995) 31:151-157.
15. Kaul R, Gao GP, Balamurugan K, Matalon R: Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nature Genet (1993) 5:118-123.
16. Baslow MH: Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice. J Inherit Metab Dis (1999) 22:99-101.
17. Matalon R, Michals K, Kaul R: Canavan disease: from spongy degeneration to molecular analysis. J Ped (1995) 127:511-517.
18. Krivit W, Peters C, Shapiro EG: Bone marrow transplantation as effective treatment of CNS disease. Curr Opin Neurol (1999) 12(2):167-176.
19. Pai KS, Ravindranath V: Toxicity of N-acetylaspartylglutamate and its protection by NMDA and non-NMDA receptor antagonists. Neurosci Lett (1991) 126:49-51.
20. Burlina AP, Skaper SD, Mazza MR, Ferrari V, Leon A, Burlina AB: N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl-D-aspartic acid in vitro. J Neurochem (1994) 63:1174-1177.
21. Rubin Y, LaPlaca MC, Smith DH, Thibault LE, Lenkinski RE: The effect of N-acetylaspartate on the intracellular free calcium concentration in NTera2-neurons. Neurosci Lett (1995) 198:209-212.
22. Tallan HH, Moore S, Stein WH: N-Acetyl-L-aspartic acid in brain. J Biol Chem (1956) 219:257-264.
23. von Specht BU, Geiger B, Amon R, Passwell J, Keren G, Goldman B, Padeh B: Enzyme replacement in Tay-Sachs disease. Neurology (1979) 29(6):848-854.
24. Barash V, Flhor D, Morag B, Boneh A, Elpeleg ON, Gilon C: A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease. Clinica Chimica Acta (1991) 201(3):175-181.
25. Toft PB, Geiss-Holtorff R, Rolland MO, Pryds O, Muller-Forell W, Christensen E, Lehnert W, Lou HC, Ott D, Hennig J: Magnetic resonance imaging in juvenile Canavan disease. Eur J Ped (1993) 152:750-753.
26. Gao X, Huang L: Potentiation of cationic liposome-mediated gene delivery by polycations. Biochemistry (1996) 35(3):1027-1036.
27. Perez-Soler R, Shin DM, Siddik ZH, Murphy WK, Huber M, Lee SJ, Khokhar AR, Hong WK: Phase I clinical and pharmacological study of liposome-entrapped NDDP administered intrapleurally in patients with malignant pleural effusions. Clin Cancer Res (1997) 3:373-379.
28. Caplen NJ, Alton EW, Middleton PG, Dorin JR, Stevenson BJ, Gao X, Durham SR, Jeffery PK, Hodson ME, Coutelle C: Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis [published erratum appears in Nat Med (1995) 1(3):272]. Nature Med (1995) 1:39-46.
29. Taylor DL, Davies SEC, Obrenovitch TP, Doheny MH, Patsalos PN, Clark JB, Symon L: Investigation into the role of N-acteylaspartate in cerebral osmoregulation. J Neurochem (1995) 65(1):275-281.