Disease Database Ceroid Lipofuscinosis

Recent update from: 26.02.04

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

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
    
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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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Contact the editor	Return to Disease Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz