Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

Ophthalmic Genetics

Volumn 21, Issue 2, 2000, Pages 69-77

  Eksandh, Louise ^a   Ponjavic, Vesna ^a   Munroe, Patricia B ^c   Eiberg, Hans ^d   Uvebrant, Paul ^b   Ehinger, Berndt ^a   Mole, Sara E ^c   Andréasson, Sten ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

1.02 kb deletion in CLN3; Batten disease; Full field ERG

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; DEVICE; DISEASE COURSE; ELECTRORETINOGRAM; EYE FUNDUS; FEMALE; FILTER; GENE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; VISUAL ACUITY;

EID: 0033880494     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200006)21:2;1-8;ft069     Document Type: Article

References (23)

1. Zeman W. The neuronal ceroid-lipofuscinoses. Prog Neuropathol 1976;3:203-223.
2. The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82:949-957.
3. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 1988;10:80-83.
4. Sharp JD, Wheeler RB, Lake BD, Fox M, Gardiner RM, Williams RE. Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23. Mol Genet Metab 1999;66:329-331.
5. Wisniewski KE, Rapin I, Heaney-Kieras J. Clinicopathological variability in childhood neuronal ceroid lipofuscinoses and new observations on glycoprotein abnormalities. Am J Med Genet 1988; 5:27-46.
6. Warburg M. The natural history of Jansky-Bielschowsky's and Batten's disease. In: Armstrong D, Koppang N, Rider JA, editors. Ceroid-Lipofuscinosis (Batten's disease). Amsterdam: Elsevier biomedical Press, 1982; 35-44.
7. Uvebrant P, Hagberg B. Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures. Neuropediatrics 1997;28:6-8.
8. Järvelä IE, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 1996;33:1041-1042.
9. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I. Prenatal diagnosis of Batten's disease. Lancet 1996;347: 1014-1015.
10. Taschner PEM, de Vos N, Breuning MH. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. J Med Genet 1997;34:955-956.
11. Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany R-M, Lerner TJ, Taschner EM, de Vos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 1997;61:310-316.
12. Copenhaver RM, Goodman G. The electroretinogram in infantile, late infantile, and juvenile amaurotic family idiocy. Arch Ophthalmol 1960;63:203-210.
13. Spalton DJ, Taylor DSI, Sanders MD. Juvenile Batten's disease: an ophthalmological assessment of 26 patients. Br J Ophthalmol 1980;64: 726-732.
14. Weleber R. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye 1998;12:580-590.
15. Birch DG. Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: an overview. Mol Genet Metab 1999;66:356-366.
16. Mole SE, Mitchison HM, Munroe PB. Molecular basis of the neuronal ceroid lipofuscinoses (NCL): mutations in CLN1, CLN2, CLN3, CLN5. Hum Mutat 1999;14:199-215.
17. Andréasson S, Tornqvist K, Ehinger B. Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia. Acta Ophthalmol 1993;71: 491-495.
18. Mitchison HM, Munroe PB, O'Rawe AM, Taschner PEM, de Vos N, Kremmidiotis G, Lensink I, Munk CA, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 1997; 40:346-350.
19. Hoffmann J. Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt Disease). Am J Ophthalmol 1956;42:15-21.
20. Beckerman BL, Rapin I. Ceroid lipofusinosis. Am J Ophthalmol 1975; 80:73-77.
21. Järvelä I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02 kb deletion). Ann Neurol 1997;42: 799-802.
22. Aberg L, Järvelä I, Rapola J, Autti T, Kirveskari E, Lappi M, Sipilä L, Santavuori P. Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall. Acta Neuropathol 1998;95:306-312.
23. Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwartz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM. Compound heterozygous genotype is associated with protraced juvenile neuronal lipofuscinosis. Ann Neurol 1998;1:106-110.