Juvenile neuronal ceroid-lipofuscinosis;Juvenil neuronal ceroid lipofuscinosis

Ugeskrift for Laeger

Volumn 160, Issue 26, 1998, Pages 3895-3900

  Oøstergaard, John R ^a   Hertz, Jens Michael ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CHILD; FLUORESCENCE ANGIOGRAPHY; GENETICS; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; REVIEW;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FLUORESCEIN ANGIOGRAPHY; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES; POLYMERASE CHAIN REACTION;

EID: 0032557750     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Rider JA, Rider DL. Batten disease, a twenty-eight-year struggle: past, present and future. Neuropediatrics 1997; 28: 4-5.
2. Goebel HH. The neuronal ceroid-lipofuscmoses. J Child Neurol 1995; 10: 424-7
3. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 1988; 10. 80-3.
4. Rider JA, Rider DL Battens disease: past, present and future. Am J Med Genet 1988; 5 (suppl): 21-6
5. Autti T MRI of patients with juvemle neuronal ceroid lipofuscinosis and variant Jansky-Bielschowsky disease compared with healthy children and adolescents [disp.] Helsinki: Eget forlag, 1995.
6. Liewendahl K, Vanhanen S-L, Heiskala H, Raininko R, Nikkinen P, Launes J et al Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses. Neuropediatrics 1997, 28: 71-3.
7. Eiberg H, Gardiner RM, Mohr J. Batten disease (SpielmeyerSjögren disease) and haptoglobins (HP): indication of linkage and assignment to chromosom 16. Clin Genet 1989; 36: 217-8.
8. The International Batten Disease Consortium Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995; 82. 949-57.
9. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM et al. Prenatal diagnosis of Batten's disease. Lancet 1996; 347: 1014-5.
10. Pullarkat RK, Morris GN. Famesylation of Batten disease CLN3 protein. Neuropediatrics 1997; 28: 42-4.
11. Lake BD, Henderson DC, Oakhill A, Vellodi A. Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Primary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease. Am J Med Genet 1995; 57: 369-73.
12. Uvebrant P, Hagberg B Neuronal ceroid lipofuscinoses in Scandinavia Epidemiology and clinical pictures. Neuropediatrics 1997; 28: 6-8.
13. Rosenberg T. Prevalence of tapeto-retinal dystrophies among Danish children. Doc Ophthalmol 1989; 73: 81-92.
14. Dolman CL, McLeod M, Chang EC. Lymphocytes and urine in ce roid lipofuscinosis. Am Pathol Lab Med 1980; 104: 487-90.
15. Hagberg B, Haltia M, Sourander P, Svennerholm L. Eeg-Olofsson O. Polyunsaturated fatty acid lipidosis ceroid lipofuscinosis I. Clinical and morphological aspects. Acta Paediatr 1974; 63: 753-63.
16. Santavouri P, Haltia M, Rapola J, Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinosis. Part I. A clinical study of 15 patients. J Neurol Sci 1973; 18: 257-67.
17. Wisniewski KE, Kida E, Patxot OF, Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinosis. Am J Med Genet 1992; 42: 525-32.
18. 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: 584-8
19. Boustany R-M. Neurology of the neuronal ceroid-lipofuscinosis. Am J Med Genet 1992; 42: 533-5.
20. Dunn DW. CT in ceroid lipofuscinosis Neurology 1987; 37 1025-6
21. Barthez-Carpentier MA, Billard C, Maheut MA, Santini JJ, Rochoux MM. A case of childhood Kufs disease. J Neurol Neurosurg Neuropsychiatry 1991; 54. 655-7
22. Boehme DH. Cottrell JC, Leonberg SC, Zeman W A dominant form of neuronal ceroid-lipofuscinosis Brain 1971; 94: 745-60.
23. Savukoski M, Kestila M, Williams R, Jarvelä I, Sharp J, Harris J et al. Defined chromosomal assignment of CLN5 demonstrates that at least four loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet 1994; 55: 695-701.
24. Variola T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I. The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish population. Am J Hum Genet 1996; 58: 506-12.
25. Santavuori P, Rapola J, Nuutila A, Raininko R, Lappi M, Launes J et al. The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 1991; 22. 92-6.
26. Hofman IL, Taschner PEM. Late onset juvenile neuronal ceroidlipofuscinosis with granular osmiophilic deposits (GROD). Am J Med Genet 1995; 57: 165-7.
27. Mitchison HM, O'Rave AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K. Refined localization of the Batten disease gene (CLN3) by haplotype anf linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region on a variant form of Batten disease with granular osmiophilic deposits. Am J Med Genet 1995; 57: 312-5.