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DATABASES

Disease Database

Neuronal Ceroid Lipofuscinoses

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

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Ceroid-lipofuscinosis neuronal 1
infantile
CLN1
INCL
GROD
256730 PPT 600722 ar 1p32

D1S211
Link(6)
Link(8)
Link(17)
Ceroid-lipofuscinosis neuronal 2
infantile
CLN2 256730 CLN2 607998 ar 11p15.5

D1S211
Link(13)
Link(14)
Link(17)
Ceroid-lipofuscinosis neuronal 3
Batten disease
Spielmeyer-Vogt-Sjögren disease
CLN3
JCNL
204200 CLN3 607042 ar 16p12.1

D16S298- D16S299
  • West Germany 0.71 per 100,000 live births
  • Link(3)
    Link(5)
    Link(1)
    Link(2)
    Link(15)
    Link(9)
    Neuronal Ceroid Lipofuscinosis
    Adult Type, Kufs Disease
    CLN4 204300 PPT 600722 ar 1p32

    D1S211
    Link(16)
    Neuronal Ceroid Lipofuscinosis, Finnish Variant, Late Infantile CLN5 256731 CLN5 608102 ar 13q21.1-32


  • 1:12,500 live births
  • Link(10)
    Link(7)
    Link(11)
    (18)
    Link(20)
    Ceroid-lipofuscinosis neuronal 6
    late infantile
    CLN6 601780 CLN6 606725 ar 15q21-23

    [6 cM D15S1020 [4 cM -D15S988 -D15S983] -D15S1000]
    • Blindness
    • Seizures
    • Cognitive decline
    Link(4)
    Link(19)
    Link(12)
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top

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