Batten disease: Four genes and still counting

Neurobiology of Disease

Volumn 5, Issue 5, 1998, Pages 287-303

  Mole, Sara E ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BLINDNESS; CHILDHOOD DISEASE; DEGENERATIVE DISEASE; GENETIC DISORDER; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; REVIEW; SEIZURE;

EID: 0032427786     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1998.0209     Document Type: Review

References (143)

1. Åberg, L., Järvelä, I., Rapola, J., Autti, T., Kirveskari, E., Lappi, M., Sipilä, L., & Santavuori, P. (1998) Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall. Acta Neuropathol. 95, 306-312.
2. Battaglioli, G., Martin, D. L., Plummer, J., & Messer, A. (1993) Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease. J. Neurochem. 60, 1567-1569.
3. Batten, F. E. (1903) Cerebral degeneration with symmetrical changes in the maculae in two members of a family. T. Ophthalmol. Soc. UK 23, 386-390.
4. Batten, F. E. (1914) Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy). Q. J. Med. 7, 444-454.
5. Bennett, M. J., Boriack, R. L., & Birch, D. G. (1997a) In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course. Neuropediatrics 28, 82-84.
6. Bennett, M. J., Boriack, R. L., & Boustany, R. M. (1997b) Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphblasts from patients with Batten disease. J. Inher. Metab. Dis. 20, 457-460.
7. Bennett, M. J., Gayton, A. R., Rittey, C. D. C., & Hosking, G. P. (1994) Juvenile neuronal ceroid-lipofuscinosis: Developmental progress after supplementation with polyunsaturated fatty acids. Dev. Med. Child Neurol. 36, 630-638.
8. Berkovic, S. F., Carpenter, S., Andermann, F., Andermann, E., & Wolfe, L. S. (1988) Kuf's disease: A critical reappraisal. Brain 111, 27-62.
9. Bielschowsky, M. (1913) Über spätinfantile familiäre amaurotische Idiotie mit Kleinhirnsymptonen. Deutsch Zeitschrift Nervenheilkunde 50, 7-29.
10. Boehme, D. H., Cottrell, J. C., Leonberg, S. C., & Zeman, W. (1971) A dominant form of neuronal ceroid-lipofuscnosis. Brain 94, 745-760.
11. Bronson, R. T., Donahue, L. R., Johnson, K. R., Tanner, A., Lane, P. W., & Faust, J. R. (1998) Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am. J. Med. Genet. 77, 289-297.
12. Bronson, R. T., Lake, B. D., Cook, S., Taylor, S., & Davisson, M. T. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann. Neurol. 33, 381-385.
13. Broom, M. F., Zhou, C., Broom, J. E., Barwell, K. J., Jolly, R. D., & Hill, D. F. (1998) Ovine neuronal ceroid lipofuscinosis: A large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. J. Med. Genet. 35, 717-721.
14. Butor, C., Griffiths, G., Aronson, N., & Varki, A. (1995) Colocalization of hydrolytic enzymes with widely disparate pH optima: Implications for the regulation of lysosomal pH. J. Cell Sci. 108, 2213-2219.
15. Camp, L. A., Verkruyse, L. A., Afendis, S. J., Slaughter, C. A., & Hofmann, S. L. (1994) Molecular cloning and expression of palmitoyl-protein thioesterase. J. Biol. Chem. 269, 23212-23219.
16. Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M. A., Pavan, W, J., Krizman, D. B., Nagle, J., Polymeropoulos, M. H., Sturley, S. L., Ioannou, Y. A., Higgins, M. E., Comly, M., Cooney, A., Brown, A., Kaneski, C. R., Blanchette-Mackie, E. J., Dwyer, N. K., Neufeld, E. B., Chang, T. Y., Liscum, L., Tagle, D. A., et al. (1997) Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science 277, 228-231.
17. Chapman, R. E., & Munro, S. (1994) The functioning of the yeast Golgi apparatus requires an ER protein encoded by ANP1, a member of a new family of genes affecting the secretory pathway. EMBO J. 13, 4896-4907.
18. Chow, C. W., Borg, J., Billson, V. R., & Lake, B. D. (1993) Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis. Prenat. Diagn. 13, 833-841.
19. Conradi, N. G., Uvebrant, P., Hökegård, K.-H., Wahlström, J., & Mellqvist, L. (1989) First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi. Prenat. Diagn. 9, 283-287.
20. Crow, Y. J., Tolmie, J. L., Howatson, A. G., Patrick, W. J. A., & Stephenson, J. B. P. (1997) Batten disease in the West of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Neuropediatrics 28, 140-144.
21. Das, A. K., Becerra, C. H. R., Yi, W., Lu, J.-Y., Siakotos, A. N., Wisniewski, K. E., & Hofmann, S. L. (1998) Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J. Clin. Invest. 102, 361-370.
22. Dawson, G., Ch, S., Siakotos, A. N., & Kilkus, J. (1997) Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1). Neuropediatrics 28, 31-32.
23. Deeg, H. J., Koppand, N., Shulman, H. M., Albrechtsen, D., Graham, T. C., & Storb, R. (1989) Allogeneic bone marow transplantation for canine ceroid lipofuscinosis. Transplant Proc. 21, 3082-3083.
24. Deeg, H. J., Shulman, H. M., Albrechtsen, D., Graham, T., Storb, R., & Koppang, N. (1990) Batten's disease: Failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model. Clin. Genet. 37, 264-270.
25. Eiberg, H., Gardiner, R. M., & Mohr, J. (1989) Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16. Clin. Genet. 36, 217-218.
26. Elleder, M., Sokolova, J., & Hrebicek, M. (1997) Follow-up study of subunit c of mitochondrial ATP syhtnase (ASCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol. 93, 379-390.
27. Eto, Y., Tsuda, T., Ohhashi, T., Yamaguchi, S., & Okuno, A. (1988) Clinical and biochemical studies of Japanese neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. 5, 59-67.
28. Ezaki, J., Wolfe, L. S., Ishidoh, K., & Kominami, E. (1995) Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). Am. J. Med. Genet. 47, 254-259.
29. Ezaki, J., Wolfe, L. S., & Kominami, E. (1997) Decreased lysosmal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis. Neuropediatrics 28, 53-55.
30. Faust, J. R., Rodman, J. S., Daniel, P. F., Dice, J. F., & Bronson, R. T. (1994) Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J. Biol. Chem. 269, 10150-10155.
31. Fearnley, I. M., Walker, J. E., Martinus, R. D., Jolly, R. D., Kirkland, K. B., Shaw, G. J., & Palmer, D. N. (1990) The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Biochem. J. 268, 751-758.
32. Fisher, L. J. (1997) Neural precursor cells: Applications for the study and repair of the central nervous system. Neurobiol. Dis. 4, 1-22.
33. Fujita, K., Yamauchi, M., Matsui, T., Titani, K., Takahashi, H., Kato, T., Isomura, G., Ando, M., & Nagata, Y. (1998) Increase of glial fibrillary acidic protein fragments in the spinal cord of motor neuron degeneration mutant mouse. Brain Res. 785, 31-40.
34. Fukuda, M. (1991) Lysosomal membrane glycoproteins. J. Biol. Chem. 266, 21327-21330.
35. Fürst, W., & Sandhoff, K. (1992) Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim. Biophys. Acta 1126, 1-16.
36. Goebel, H. H., & Sharp, J. D. (1998) The neuronal ceroid-lipofuscinoses: Recent advances. Brain Pathol. 8, 151-162.
37. Hall, N. A., Lake, B. D., Dewji, N. N., & Patrick, A. D. (1991) Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid lipofuscinosis). J. Biochem. 275, 269-272.
38. Hall, N. A., & Patrick, A. D. (1988) Accumulation of dolichol-linked oligosaccharides. Am. J. Med. Genet. 5, 221-232.
39. Hashimoto, H., & Yoda, K. (1997) Novel membrane protein complexes for protein glycosylation in the yeast Golgi apparatus. Biochem. Biophys. Res. Commun. 24, 682-686.
40. Hellsten, E., Vesa, J., Speer, M. C., Mäkelä, T. P., Järvelä, I., Alitalo, K., Ott, J., & Peltonen, L. (1993) Refined assignment of the infantile neuronal ceroid lipofuscinoses (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis. Genomics 16, 720-725.
41. Hofmann, S. L., Lee, L. A., Lu, J.-Y., & Verkruyse, L. A. (1997) Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid-lipofuscinosis. Neuropediatrics 28, 27-30.
42. Holmes, F. E., & Haynes, L. W. (1996) Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant. Neurosci. Lett. 213, 185-188.
43. Hoogerbrugge, P. M., Brouwer, O. F., Bordigoni, P., Ringden, O., Kapaun, P., Ortega, J. J., O'Meara, A., Cornu, G., Souillet, G., Frappaz, D., Blanche, S., Fischer, A., for The European Group for Bone Marrow Transplantation (1995) Allogeneic bone marrow transplantation for lysosomal storage diseases: The European Group for Bone Marrow Transplantation. Lancet 345, 1398-1402.
44. The International Batten Disease Consortium. (1995) Isolation of a novel gene underlying Batten disease (CLN3). Cell 82, 949-957.
45. Ivy, G. O., Schottler, F., Wenzel, J., Baudry, M., & Lynch, G. (1984) Inhibitors of lysosomal enzymes: accumulation of lipofuscin-like dense bodies in the brain. Science 226, 985-987.
46. Janes, R. W., Munroe, P. B., Mitchsion, H. M., Gardiner, R. M., Mole, S. E., & Wallace, B. A. (1996) A model for Batten disease protein CLN3: Functional implications from homology and mutations. FEBS Lett. 399, 75-77.
47. Järplid, B., & Haltia, M. (1993) An animal model of the infantile type of neuronal ceroid lipofuscinosis. J. Inher. Metab. Dis. 16, 274-277.
48. Järvelä, I., Rapola, J., Peltonen, L., Puhakka, L., Vesa, J., Ämmälä, P., Salonen, R., Ryynänen, M., Haring, P., Mustonen, A., & Santavuori, P. (1991a) DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1). Prenat. Diagn. 11, 323-328.
49. Järvelä, I., Sainio, M., Rantamaki, T., Olkkonen, V. M., Carpén, O., Peltonen, L., & Jalanko, A. (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum. Mol. Genet. 7, 85-90.
50. Järvelä, I., Schleutker, J., Haataja, L., Santavuori, P., Puhakka, L., Manninen, T., Palotie, A., Sandkuijl, L. A., Renlund, M., White, R., Aula, P., & Peltonen, L. (1991b) Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 9, 170-173.
51. Järvelä, I. E., Mitchison, H. M., Munroe, P. B., O'Rawe, A. M., Mole, S. E., & Syvänen, A.-C. (1996) Rapid diagnostic test for the major mutation underlying Batten disease. J. Med. Genet. 33, 1041-1042.
52. Jolly, R. D. (1995). Comparative bioogy of the neuronal ceroid lipofuscinoses (NCL): An overview. Am. J. Med. Genet. 57, 307-311.
53. Jolly, R. D., Martinus, R. D., & Palmer, D. N. (1992) Sheep and other animals with ceroid lipofuscinoses: Their relevance to Batten disease. Am. J. Med. Genet. 42, 609-614.
54. Jungmann, J., & Munro, S. (1998) Multi-protein complexes in the cis Golgi of Saccharomyces cerevisiae with alpha-1,6-mannosyltransferase activity. EMBO J. 17, 423-434.
55. Katz, M. L., Christianson, J., Norbury, N. E., Gao, C., Siakotos, A. N., & Koppang, N. (1994) Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid lipofuscinosis. J. Biol. Chem. 269, 9906-9911.
56. Katz, M. L., Gao, C.-L., Prabhakaram, M., Shibuya, H., Liu, P.-C., & Johnson, G. S. (1997a) Immunochemical localization of the Batten disease (CLN3) protein in retina. Invest. Ophth. Vis. Sci. 38, 2375-2386.
57. Katz, M. L., Gao, C. L., Tompkins, J. A., Bronson, R. T., & Chin, D. T. (1995) Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine. Biochem. J. 310, 887-892.
58. Katz, M. L., & Gerhardt, K. O. (1992) Methylated lysine in storage body protein of sheep with hereditary ceroid-lipofuscinosis. Biochim. Biophys. Acta 1138, 97-108.
59. Katz, M. L., Rice, L. M., & Gao, C.-L. (1997b) Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis. J. Neurosci. Res. 50, 123-132.
60. Katz, M. L., & Rodrigues, M. (1991) Juvenile ceroid lipofuscinosis. Evidence for methylated lysine in neural storage body protein. Am. J. Pathol 138, 323-332.
61. Katz, M. L., & Siakotos, A. N. (1995) Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway. Am. J. Med. Genet. 57, 266-271.
62. Katz, M. L., Siakotos, A. N., Gao, Q., Freiha, B., & Chin, D. T. (1997c) Late-infantile ceroid-lipofuscinosis: Lysine methylation of mitochondrial ATP synthase subunit c from lysosomal storage bodies. Biochim. Biophys. Acta 1361, 66-74.
63. Kay, M. A., Liu, D., & Hoogerbrugge, P. M. (1997) Gene therapy. Proc. Natl. Acad. Sci. USA 94, 12744-12746.
64. Kaye, E. M. (1995) Therapeutic approaches to lysosomal storage diseases. Curr. Opin. Pediatr. 7, 650-654.
65. Keller, R. K., Armstrong, D., Crum, F. C., & Koppang, N. (1984) Dolichol and dolichyl phosphate levels in brain tissue from English setters with ceroid lipofuscinosis. J. Neurochem. 42, 1040-1047.
66. Kittles, R. A., Perola, M., Peltonen, L., Bergen, A. W., Aragon, R. A., Virkkunen, M., Linnoila, M., Goldman, D., & Long, J. C. (1998) Dual origins of Finns revealed by Y chromosome haplotype variation. Am. J. Hum. Genet. 62, 1171-1179.
67. Klockars, T., Savukoski, M., Isosomppi, J., Laan, M., Järvelä, I., Petrukhin, K., Palotie, A., & Peltonen, L. (1996) 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. Genomics 35, 71-78.
68. Koppang, N. (1992) English Setter model and juvenile ceroid-lipofuscinosis in man. Am. J. Med. Genet. 42, 599-604.
69. Lake, B., Henderson, D., Oakhill, A., & Vellodi, A. (1995) Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis): Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease. Am. J. Med. Genet. 57, 369-373.
70. Lake, B. D., & Hall, N. A. (1993) Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. J. Inher. Metab. Dis. 16, 263-266.
71. Lake, B. D., Steward, C. G., Oakhill, A., Wilson, J., & Perham, T. G. (1997) Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. Neuropediatrics 28, 80-81.
72. Lake, B. D., Young, E. P., & Winchester, B. G. (1998) Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 8, 133-149.
73. Lauronen, L., Munroe, P. B., Järvelä, I., Autti, T., Varilo, T., O'Rawe, A. M., Mitchison, H. M., Gardiner, R. M., Mole, S. E., Puranen, J., Häkkinen, A.-M., Kirveskari, E., & Santavuori, P. Delayed classical and prolvacted phenotypes of compound heterozygouw juvenile NCe. Neurology, in press.
74. Lee, R. L., Johnson, K. R., & Lerner, T. J. (1996) Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics 35, 617-619.
75. Li, J., Nixon, R., Messer, A., Berman, S., & Bursztajn, S. (1998) Altered gene expression for calpain/calpastatin system in motor neuron degeneration (Mnd) mutant mouse brain and spinal cord. Brain Res. Mol. Brain Res. 53, 174-186.
76. Lipman, R. D., Donohue, L. R., Hoppe, P., & Bronson, R. T. (1996) Evidence that lysosomal storage of proteolipids is a cell autonomous process in the motor neuron degeneration (mnd) mouse, a model of neuronal ceroid lipofuscinosis. Neurosci. Lett. 219, 111-114.
77. Lu, J.-Y., Verkruyse, L. A., & Hofmann, S. L. (1996). Lipid thioesters derived from acylated proteins accumulate in infantile ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proc. Natl. Acad. Sci. USA 93, 1046-10050.
78. MacLeod, P., Dolman, C., Nickel, R., Chang, E., Nag, S., Zonana, J., & Silvey, K. (1985) Prenatal diagnosis of neuronal ceroid lipofuscinoses. Am. J. Med. Genet. 22, 781-789.
79. Mazurkiewicz, J. E., Callahan, L. M., Swash, M., Martin, J. E., & Messer, A. (1993) Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd) mouse. I. Light microscopic analysis. J. Neurol. Sci. 116, 59-66.
80. Messer, A., & Flaherty, L. (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J. Neurogenet. 3, 345-355.
81. Messer, A., Plummer, J., MacMillen, M. C., & Frankel, W. N. (1995) Genetics of primary and timing effects in the mnd mouse. Am. J. Med. Genet. 57, 361-364.
82. Messer, A., Plummer, J., Maskin, P., Coffin, J. M., & Frankel, W. N. (1992) Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). Genomics 13, 797-802.
83. Milá, M., Mallolas, J., Pineda, M., Ferrer, I., Vernet, A., Badenas, C., Sánchez, A., & Ballesa, F. (1998) Mutations in CLN3 gene responsible of Batten disease. Eur. J. Hum. Genet. 6, 145.
84. 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.,& O'Rawe, A. M. (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum. Mol. Genet. 7, 291-297.
85. Mitchison, H. M., O'Rawe, A. M., Taschner, P. E. M., Santavuori, P., de Vos, N., Breuning, M. H., Mole, S. E., Gardiner, R. M., & Järvelä, I. E. (1995) Batten disease (CLN3): Linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes. Am. J. Hum. Genet. 56, 654-662.
86. Mole, S. E. (1996) Recent advances in the molecular genetics of neuronal ceroid lipofuscinoses. J. Inher. Metab. Dis. 19, 269-274.
87. Mole, S. E. (1997) Gene table: Neuronal ceroid lipofuscinoses (NCL). Eur. J. Paediatr. Neurol. 5/6, 187.
88. Mole, S. E., Gardiner, R. M., & Goebel, H. H. (1998) Workshop on the genetic and molecular basis of the NCLs: London, UK, 13-16 November 1997. Eur. J. Paediatr. Neurol. 2, A1-A18.
89. Munroe, P. B., Greene, N. D. E., Leung, K.-Y., Stephenson, J. B. P., Crow, Y. J., Mole, S. E., Gardiner, R. M., & Mitchison, H. M. (1998) Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. J. Med. Genet. 35, 790.
90. Munroe, P. B., Mitchison, H. M., O'Rawe, A. M., Anderson, J. W., Boustany, R.-M., Lerner, T. J., Taschner, P. E. M., de Vos, N., Breuning, M. H., Gardiner, R. M., & Mole, S. E. (1997) Spectrum of mutations in the Batten disease gene, CLN3. Am. J. Hum. Genet. 61, 310-316.
91. Munroe, P. B., Rapola, J., Mitchison, H. M., Mole, S. E., Gardiner, R. M., & Järvelä, I. E. (1996) Prenatal diagnosis of Batten disease. Lancet 347, 1014-1015.
92. Neufeld, E. F. (1991) Lysosomal storage diseases. Annu. Rev. Biochem. 60, 257-280.
93. Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J., Frenk, E., Tamura, N., & Spritz, R. A. (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet. 14, 300-306.
94. O'Rawe, A., Mitchison, H. M., Williams, R., Wheeler, R., Andermann, E., Andermann, F., Hart, Y. M., Martin, J.-J., Philippart, M., Stephenson, J. B. P., Gardiner, R. M., & Mole, S. E. (1997) Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics 28, 21-22.
95. Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D., & Jolly, R. D. (1992) Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am. J. Med. Genet. 42, 561-567.
96. Palmer, D. N., Jolly, R. D., van Mil, H. C., Tyynelä, J., & Westlake, V. J. (1997a) Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 28, 45-48.
97. Palmer, D. N., Tyynelä, J., van Mil, H. C., Westlake, V. J., & Jolly, R. D. (1997b) Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscnosis. J. Inher. Metab. Dis. 20, 74-84.
98. Pardo, C. A., Rabin, B. A., Palmer, D. N., & Price, D. L. (1994) Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse: A model for neuronal ceroid lipofuscinosis. Am. J. Pathol. 144, 829-835.
99. Pearce, D. A., & Sherman, F. (1997) BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochindrial ATP synthase. Yeast 13, 691-697.
100. Pearce, D. A., & Sherman, F. (1998) A yeast model for the study of Batten disease. Proc. Natl. Acad. Sci. USA 95, 6915-6918.
101. Plummer, J., Peterson, A., & Messer, A. (1995) Accelerated and widespread neuronal loss occurs in motor neuron degeneration (mnd) mice expressing a neurofilament-disrupting transgene. Mol. Cell Neurosci. 6, 532-543.
102. Porter, J. C., Messer, A., & Peterson, A. (1997) The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts. Mol. Cell Neurosci. 9, 185-193.
103. Pullarkat, R. K., Kim, K. S., Sklower, S. L., & Patel, V. K. (1988) Oligosaccharyl diphosphodolichols in the ceroid-lipofuscinoses. Am. J. Med. Genet. 5, 243-251.
104. Rapola, J., Salonen, R., Ammala, P., & Santavuori, P. (1990) Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi. Prenat. Diagn. 10, 553-559.
105. Riis, R. C., Cummings, J. F., Loew, E. R., & de Lahunta, A. (1992) Tibetan terrier model of canine ceroid lipofuscinosis. Am. J. Med. Genet. 42, 615-621.
106. Santavuori, P. (1988) Neuronal ceroid lipofuscinosis in childhood. Brain Dev. 10, 80-83.
107. Santavuori, P., Heiskala, H., Westermarck, T., Sainio, K., & Moren, R. (1988) Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease. Am. J. Med. Genet. 5, 265-274.
108. Santavuori, P., & Moren, R. (1977) Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjogren type. Neuropaediatrie 8, 333-344.
109. Santorelli, F. M., Bertini, E., Petruzzella, V., Di Capua, M., Calvieri, S., Gasparini, P., & Zeviani, M. (1998) A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. Biochem. Biophys. Res. Commun. 245, 519-22.
110. Savukoski, M., Kestila, M., Williams, R., Järvelä, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., & Peltonen, L. (1994) Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am. J. Hum. Genet. 55, 695-701.
111. Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., & Peltonen, L. (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet. 19, 286-28.
112. Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukowski, M., Järvelä, I. E., Peltonen, L., Gardiner, R. M., & Williams, R. E. (1997) Loci for classical and a variant late infantile neuronal ceroid lipfuscinoses map to chromosomes 11p15 and 15q21-23. Hum. Mol. Genet. 6, 591-596.
113. Shibuya, H., Liu, P. C., Katz, M. L., Siakotos, A. N., Nonneman, D. J., & Johnson, G. S. (1998) Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs. J. Neurosci. Res. 52, 268-75.
114. Siakotos, A. N., Schnippel, K., Lin, R. C., & Van Kuijk, F. J. G. M. (1995) Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis. Am. J. Med. Genet. 57, 290-293.
115. Sleat, D. E., Donnelly, R. J., Lackland, H., Liu, C.-G., Sohar, I., Pullarkat, R. K., & Lobel, P. (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277, 1802-1805.
116. Snyder, E. Y., & Fisher, L. J. (1996) Gene therapy in neurology. Curr. Opin. Pediatr. 8, 558-568.
117. Snyder, E. Y., & Senut, M. C. (1997) The use of nonneuronal cells for gene delivery. Neurobiol. Dis. 4, 69-102.
118. Sohal, R. S., & Brunk, U. T. (1989) Lipofuscin and Ceroid Pigments (E. A. Porta, ,Ed.), pp. 17-29. Plenum, NewYork.
119. Soyombo, A. A., & Hofmann, S. L. (1997) Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity. J. Biol. Chem. 272, 27456-27463.
120. Spielmeyer, W. (1905) Über familiäre amaurotische Idiote. Neurol. Zbl. 24, 620-621.
121. Stengel, O. C. (1826) Account of a singular illness among four siblings in the vicinity of R[00d8]raas. Trans. Eyr, Christiana 1826 1, 347-352. In Ceroid-Lipofuscinosis (Batten's Disease), pp. 17-19. Elsevier/North Holland, 1982, Amsterdam.
122. Syvänen, A. C., Järvelä, I., Paunio, T., & Vesa, J. (1997) DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses. Neuropediatrics 28, 63-66.
123. 0-ATP synthase subunit 9 and other proteolipids in normal and Batten disease fibroblasts. Biochim. Biophys. Acta 1361, 251-262.
124. Taschner, P. E., de Vos, N., & Breuning, M. H. (1997) Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. J. Med. Genet. 34, 955-956.
125. Taschner, P. E. M., de Vos, N., Thompson, A. D., Callen, D. F., Doggett, N. A., Mole, S. E., Dooley, T. P., Barth, P. G., & Breuning, M. H. (1995) Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am. J. Hum. Genet. 56, 663-668.
126. Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S. A., Callen, D. F., Gribouval, O., Broyer, M., Bates, G. P., van't Hoff, W., & Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet. 18, 319-324.
127. Tyynelä, J., Baumann, M., Henseler, M., Sandhoff, K., & Haltia, M. (1995) Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study. Acta Neuropathol. 89, 391-398.
128. Tyynelä, J., Palmer, D. N., Baumann, M., & Haltia, M. (1993) Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett. 330, 8-12.
129. Tyynelä, J., Suopanki, J., Baumann, M., & Haltia, M. (1997) Sphingo-lipid activator proteins (SAPs) in neuronal ceroid-lipofuscinoses (NCL). Neuropediatrics 28, 49-52.
130. Uvebrant, P., & Hagberg, B. (1997) Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures. Neuropediatrics 28, 6-8.
131. Vance, J. E., Stone, S. J., & Faust, J. R. (1997) Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1344, 286-299.
132. Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., & Järvelä, I. (1996) The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am. J. Hum. Genet. 58, 506-512.
133. Verkruyse, L. A., & Hofmann, S. L. (1996) Lysosomal targeting of palmitoyl-protein thioesterase. J. Biol. Chem. 271, 15831-15836.
134. Vesa, J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L., & Peltonen, L. (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376, 584-587.
135. Vogt, H. (1905) Über familiäre amaurotische Idiotie und verwandtl Krankheitsbilder. Montasschr. Psychiat. Neurol. 18, 161-171.
136. Winchester, B. (Ed.) (1992) The Lysosome: Structure, Organisation and Function, Vol. 4, Fundementals of Medical Cell Biology: Membranology and Subcellular Organelles. JAI Press, London.
137. Wisniewski, K. E., Becerra, C. R., & Hofmann, S. L. (1997) A novel granular variant (GROD) form of late infantile neuronal ceroid lipofuscinosis (CLN2) is an infantile form of NCL (CLN1) when biochemically studied. J. Neuropathol. Exp. Neurol. 56, 94.
138. Wisniewski, K. E., Connell, F., Kaczmarski, W., Kaczmarski, A., Siakotos, A., Becerra, C. R., & Hofmann, S. L. (1998a) Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. Pediatr. Neurol. 18, 119-123.
139. Wisniewski, K. E., Zhong, N., Kaczmarski, W., Kaczmarski, A., Kida, E., Brown, W. T., Schwarz, K. O., Lazzarini, A. M., Rubin, A. J., Stenroos, E. S., Johnson, W. G., & Wisniewski, T. M. (1998b) Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann. Neurol. 43, 106-110.
140. Wolfe, L. S., Ivy, G. O., & Witkop, C. J. (1987) Dolichols, lysosomal membrane turnover and relationships to the accumulation of ceroid and lipofuscin in inherited diseases, Alzheimer's disease and ageing. Chem. Scripta 27, 79-84.
141. Wolfe, L. S., Palo, J., Santavuori, P., Andermann, F., Andermann, E., Jacob, J. C., & Kolodny, E. (1986) Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis. Ann. Neurol. 19, 270-274.
142. Zeman, W., & Dyken, P. (1969) Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic familial idiocy? Pediatrics 44, 570-583.
143. Zhong, N., Wisniewski, K. E., Kaczmarski, A. L., Ju, W., Xu, W. M., Xu, W. W., Mclendon, L., Liu, B., Kaczmarski, W., Brooks, S. S., & Brown, W. T. (1998) Molecular screening of Batten disease: Identification of a missense mutation (E295K) in the CLN3 gene. Hum. Genet. 102, 57-62.