Characterization of neuronal ceroid-lipofuscinosis in Venezuelan children;Caracterización de la ceroidolipofuscinosis en niños Venezolanos

Revista de Neurologia

Volumn 38, Issue 1, 2004, Pages 42-48

  Peña, Joaquín A ^a   Montiel Nava, C ^a   Delgado, W ^a   Hernandez M L ^a   Cardozo, J J ^a   Mora, E ^a   Soto Faneite, L ^a  

^a HOSPITAL UNIVERSITARIO DE MARACAIBO   (Venezuela)

Author keywords

Batten disease; Neurodegenerative disorders; Neuronal ceroid lipofuscinosis

Indexed keywords

ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DISEASE CLASSIFICATION; DISEASE COURSE; ELECTROENCEPHALOGRAM; FEMALE; HEREDITY; HUMAN; MALE; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PSYCHOMOTOR DISORDER; PUTAMEN; RETINA MACULA DEGENERATION; SEIZURE; THALAMUS; VENEZUELA;

EID: 1342279336     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3801.2003300     Document Type: Article

References (32)

1. Boustany RM. Batten disease or neuronal ceroid lipofuscinosis. In Moser H, ed. Handbook of clinical neurology: neurodystrophies and neurolipidoses. Amsterdam: Elsevier Science; 1996. p. 671-700.
2. Santavuori P, Haltia M, Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinoses. Dev Med Child Neurol 1974; 16: 644-53.
3. Mole S, Gardiner M. Molecular genetics of the neuronal ceroid lipofuscinoses. Epilepsia 1999; 40 (Suppl 3): 29-32.
4. Haines JL, Boustany RM, Alroy J, Auger KJ, Shook KS, Terwedow H, et al. Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. Neurogenetics 1998; 1: 217-22.
5. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003; 62: 1-13.
6. Santavuori P, Haltia M, Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinoses. Dev Med Child Neurol 1974; 16: 644-53.
7. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. Cln5, A novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998; 19: 286-8.
8. Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, et al. Mutations in a novel Cln6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 2002; 70: 324-35.
9. Teixeira C, Espinola J, Huo L, Kohlschutter J, Persaud-Sawin DA, Minassian B, et al. Novel mutations in the Cnl6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Human Mutation 2003; 21: 502-8.
10. Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE. The neuronal ceroid lipofuscinosis Cln8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 2000; 9: 1691-7.
11. Santavuori P, Rapola J, Nuutila A, Raininko R, Lappi M, Launes J, et al. The spectrum of Jansky-Bielschowski disease. Neuropediatrics 1991; 22: 92-6.
12. Aicardi J, Plouin P, Goutières F. Ceroid-lipofuscinosis. Electroencephalogr Clin Neurophysiol 1978; 8: 149-59.
13. Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatry 1977; 40: 323-30.
14. Veneselli E, Biancheri R, Buoni S, Fois A. Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis. Brain Dev 2001; 23: 306-11.
15. Hellsten E, Vesa J, Olkkonen VM, Jalanko A, Peltonen L. Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J 1996; 15: 5240-5.
16. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995; 376: 584-7.
17. Verkruyse LA, Hofmann SL. Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem 1996; 271: 15831-6.
18. Sleat DE, Donnelly RJ, Lackland H, Liu CC, Sohar I, Pullarkat RK, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997; 277: 1802-5.
19. Isosomppi J, Vesa J, Jalanko A, Peltonen L. Lysosomal localization of the neuronal ceroid lipofuscinosis Cln5 protein. Hum Mol Genet 2002; 11: 885-91.
20. Jarvela I, Sainio M, Rantamaki T, Olkkonen VM, Carpen O, Peltonen L, et al. Biosynthesis and intracellular targeting of the Cln3 protein defective in Batten disease. Hum Mol Genet 1998; 7: 85-90.
21. Wheeler RB, Schlie M, Kominami E, Gerhard L, Goebel HH. Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type -re-revisited. Acta Neuropathol (Berl) 2001; 102: 485-8.
22. Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinoses map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997; 6: 591-5.
23. Peña J, Cardozo J, Montiel C, Molina O, Boustany RM. Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis. Pediatr Neurol 2001; 25: 78-80.
24. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P. Jansky-Bielschowski variant disease: CT, MRI, and SPECT findings. Pediatr Neurol 1992; 8: 121-6.
25. Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, et al. Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 2000; 55: 579-81.
26. Pettersen B, Handwerker M, Huppertz H. Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis. Pediatr Neurol 1996; 15: 344-7.
27. Machen BC, Williams JP, Lum GB, Dyken P, Joslyn JN, Harpen MD. Magnetic resonance imaging in neuronal ceroid-lipofuscinosis. J Comput Tomogr 1987; 2: 160-6.
28. Peña JA, Cardozo J, González S, Luna D. Aspectos neurológicos de la ceroidolipofuscinosis. Rev Neurol 2000; 31: 283-7.
29. Santavuori P, Vanhanen SL, Autti T. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol 2001; 5 (Suppl): 157-61.
30. Vanhanen SL, Raininko R, Santavuori P. Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett-syndrome and Krabbe disease by CT. Am J Neuroradiol 1994; 15: 1443-53.
31. Boustany RM, Kolodny EH. Neurological progress: the neuronal ceroid lipofuscinoses: a review. Rev Neurol (Paris) 1989; 145: 105-10.
32. Puga AC, Jardim LB, Chimelli L, De Souza CF, Clivati M. Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil. Arq Neuropsiquiatr 2000; 58: 597-606.