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Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

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References

1. Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A., Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., and Jarvela,I. Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. 1991; Am.J.Hum.Genet. 49: 1372-1377.
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2. Claussen,M., Heim,P., Knispel,J., Goebel,H.H., and Kohlschutter,A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. 1992; Am.J.Med.Genet. 42: 536-538.
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3. Eiberg,H., Gardiner,R.M., and Mohr,J. Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. 1989; Clin Genet. 36: 217-218.
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4. Gao,H., Boustany,R.M., Espinola,J.A., Cotman,S.L., Srinidhi,L., Antonellis,K.A., Gillis,T., Qin,X., Liu,S., Donahue,L.R., Bronson,R.T., Faust,J.R., Stout,D., Haines,J.L., Lerner,T.J., and MacDonald,M.E. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 2002; Am.J.Hum.Genet. 70: 324-335.
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5. Gardiner,M., Sandford,A., Deadman,M., Poulton,J., Cookson,W., Reeders,S., Jokiaho,I., Peltonen,L., Eiberg,H., and Julier,C. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. 1990; Genomics. 8: 387-390.
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6. Gerber,S., Odent,S., Postel-Vinay,A., Janin,N., Dufier,J.L., Munnich,A., Frezal,J., and Kaplan,J. Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. 1994; J.Med.Genet. 31: 222-223.
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7. Klockars,T., Savukoski,M., Isosomppi,J., Laan,M., Jarvela,I., Petrukhin,K., Palotie,A., and Peltonen,L. Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. 1996; Genomics. 35: 71-78.
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8. Mitchison,H.M., Hofmann,S.L., Becerra,C.H.R., Munroe,P.B., Lake,B.D., Crow,Y.J., Stephenson,J.B.P., Williams,R.E., Hofman,I.L., Taschner,P.E.M., Martin,J.J., Philippart,M., Andermann,E., Andermann,F., Mole,S.E., Gardiner,R.M., Orawe,A.M., Becerra,C.H., Stephenson,J.B., and O'Rawe,A.M. Mutations In The Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits. 1998; Hum.Mol.Genet. 7: 291-297.
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9. Munroe,P.B., Mitchison,H.M., Orawe,A.M., Anderson,J.W., Boustany,R.M., Lerner,T.J., Taschner,P.E.M., Devos,N., Breuning,M.H., Gardiner,R.M., and Mole,S.E. Spectrum Of Mutations In The Batten Disease Gene, CLN3. 1997; Am.J.Hum.Genet. 61: 310-316.
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10. Savukoski,M., Kestila,M., Williams,R., Jarvela,I., Sharp,J., Harris,J., Santavuori,P., Gardiner,M., and Peltonen,L. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. 1994; Am.J.Hum.Genet. 55: 695-701.
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11. Savukoski,M., Klockars,T., Holmberg,V., Santavuori,P., Lander,E.S., and Peltonen,L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 1998; Nat.Genet. 19: 286-288.
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12. Sharp,J.D., Wheeler,R.B., Lake,B.D., Savukoski,M., Jarvela,I.E., Peltonen,L., Gardiner,R.M., and Williams,R.E. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. 1997; Hum.Mol.Genet. 6: 591-595.
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13. Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.G., Sohar,I., Pullarkat,R.K., and Lobel,P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 1997; Science. 277: 1802-1805.
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14. Sleat,D.E., Gin,R.M., Sohar,I., Wisniewski,K., Sklower-Brooks,S., Pullarkat,R.K., Palmer,D.N., Lerner,T.J., Boustany,R.M., Uldall,P., Siakotos,A.N., Donnelly,R.J., and Lobel,P. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 1999; Am.J.Hum.Genet. 64: 1511-1523.
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15. Taschner,P.E., de Vos,N., Thompson,A.D., Callen,D.F., Doggett,N., Mole,S.E., Dooley,T.P., Barth,P.G., and Breuning,M.H. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). 1995; Am.J.Hum.Genet. 56: 663-668.
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16. van Diggelen,O.P., Thobois,S., Tilikete,C., Zabot,M.T., Keulemans,J.L., van Bunderen,P.A., Taschner,P.E., Losekoot,M., and Voznyi,Y.V. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 2001; Ann.Neurol. 50: 269-272.
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17. Vesa,J., Hellsten,E., Verkruyse,L.A., Camp,L.A., Rapola,J., Santavuori,P., Hofmann,S.L., and Peltonen,L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 1995; Nature. 376: 584-587.
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18. Vesa,J., Klockars,T., Isosomppi,J., Savukoski,M., Heinonen,O., Kyttala,A., Jalanko,A., and Peltonen ,L. Molecular and cellular defects in the CLN1 and CLN5 disorders. 1999; Am.J.Hum.Genet. 65: A115 Goto Top
    
19. Wheeler,R.B., Sharp,J.D., Schultz,R.A., Joslin,J.M., Williams,R.E., and Mole,S.E. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 2002; Am.J.Hum.Genet. 70: 537-542.
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20. Williams,R., Santavuori,P., Peltonen,L., Gardiner,R.M., and Jarvela,I. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjogren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. 1994; Genomics. 20: 289-290.
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