Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye

Survey of Ophthalmology

Volumn 54, Issue 4, 2009, Pages 463-471

  Bozorg, Sara ^a   Ramirez Montealegre, Denia ^a   Chung, Mina ^a   Pearce, David A ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

autofluorescence; Batten disease; ceroid; CLN3; neuronal ceroid ipofuscinosis Ceroid; retinal degeneration

Indexed keywords

CARBAMAZEPINE; CATHEPSIN D; CITALOPRAM; CLONAZEPAM; DOPAMINE RECEPTOR STIMULATING AGENT; LAMOTRIGINE; MEMBRANE PROTEIN; OLANZAPINE; PALMITOYL PROTEIN THIOESTERASE; PROTEIN CLN3; QUETIAPINE; RISPERIDONE; UNCLASSIFIED DRUG; VALPROIC ACID;

CLINICAL EXAMINATION; CLINICAL FEATURE; DEMENTIA; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; EYE DISEASE; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; MOLECULAR GENETICS; MOOD DISORDER; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PSYCHOSIS; RETINA DEGENERATION; REVIEW; SCHIZOPHRENIA; SEIZURE; VISUAL DISORDER;

ANIMALS; DIAGNOSIS, DIFFERENTIAL; DISEASE MODELS, ANIMAL; EARLY DIAGNOSIS; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES; RETINAL DEGENERATION;

EID: 66949124291     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2009.04.007     Document Type: Review

References (99)

1. Aberg L., Liewendahl K., Nikkinen P., et al. Decreased striatal dopamine transporter density in jncl patients with parkinsonian symptoms. Neurology 54 5 (2000) 1069-1074
2. Aberg L.E., Backman M., Kirveskari E., et al. Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 41 10 (2000) 1296-1302
3. Aberg L.E., Rinne J.O., Rajantie I., et al. A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. Neurology 56 9 (2001) 1236-1239
4. Adams H., de Blieck E.A., Mink J.W., et al. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol 48 4 (2006) 259-264
5. Adams H.R., Kwon J., Marshall F.J., et al. Neuropsychological symptoms of juvenile-onset batten disease: Experiences from 2 studies. J Child Neurol 22 5 (2007) 621-627
6. Autti T., Raininko R., Santavuori P., et al. MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type. Neuroradiology 39 5 (1997) 371-377
7. Autti T., Raininko R., Vanhanen S.L., et al. MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 38 5 (1996) 476-482
8. Awano T., Katz M.L., O'Brien D.P., et al. A frame shift mutation in canine tpp1 (the ortholog of human cln2) in a juvenile dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89 3 (2006) 254-260
9. Backman M.L., Aberg L.E., Aronen E.T., et al. New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses-a pilot study. Eur J Paediatr Neurol 5 Suppl A (2001) 163-166
10. Backman M.L., Santavuori P.R., Aberg L.E., et al. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res 49 Pt 1 (2005) 25-32
11. Bensaoula T., Shibuya H., Katz M.L., et al. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in batten disease. Ophthalmology 107 9 (2000) 1746-1753
12. Birch D.G. Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview. Mol Genet Metab 66 4 (1999) 356-366
13. Bohra L.I., Weizer J.S., Lee A.G., et al. Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis. J Neuroophthalmol 20 2 (2000) 111-115
14. Bronson R.T., Lake B.D., Cook S., et al. Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann Neurol 33 4 (1993) 381-385
15. Broom M.F., Zhou C., Broom J.E., et al. Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant cln6. J Med Genet 35 9 (1998) 717-721
16. Cao Y., Espinola J.A., Fossale E., et al. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 281 29 (2006) 20483-20493
17. Castaneda J.A., Lim M.J., Cooper J.D., et al. Immune system irregularities in lysosomal storage disorders. Acta Neuropathol 115 2 (2008 Feb) 159-174
18. Castaneda J.A., and Pearce D.A. Identification of alpha-fetoprotein as an autoantigen in juvenile batten disease. Neurobiol Dis 29 1 (2008) 92-102
19. Chang B., Bronson R.T., Hawes N.L., et al. Retinal degeneration in motor neuron degeneration: A mouse model of ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 35 3 (1994) 1071-1076
20. Chattopadhyay S., Ito M., Cooper J.D., et al. An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder batten disease. Hum Mol Genet 11 12 (2002) 1421-1431
21. Chattopadhyay S., and Pearce D.A. Interaction with btn2p is required for localization of rsglp: btn2p-mediated changes in arginine uptake in saccharomyces cerevisiae. Eukaryot Cell 1 4 (2002) 606-612
22. Collins J., Holder G.E., Herbert H., et al. Batten disease: Features to facilitate early diagnosis. Br J Ophthalmol 90 9 (2006) 1119-1124
23. Consortium B.D. Isolation of a novel gene underlying batten disease, cln3. The international batten disease consortium. Cell 82 6 (1995) 949-957
24. Cotman S.L., Vrbanac V., Lebel L.A., et al. Cln3(deltaex7/8) knock-in mice with the common jncl mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet 11 22 (2002) 2709-2721
25. Crockett A.O., and Wittwer C.T. Fluorescein-labeled oligonucleotides for real-time PCR: using the inherent quenching of deoxyguanosine nucleotides. Anal Biochem 290 1 (2001) 89-97
26. de los Reyes E., Dyken P.R., Phillips P., et al. Profound infantile neuroretinal dysfunction in a heterozygote for the cln3 genetic defect. J Child Neurol 19 1 (2004) 42-46
27. Dhar S., Bitting R.L., Rylova S.N., et al. Flupirtine blocks apoptosis in Batten patient lymphoblasts and in human postmitotic cln3- and cln2-deficient neurons. Ann Neurol 51 4 (2002) 448-466
28. Drogemuller C., Wohlke A., and Distl O. Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog. J Hered 96 7 (2005) 735-738
29. Eksandh L.C., Ponjavic V., Ayyagari R., et al. Phenotypic expression of juvenile x-linked retinoschisis in swedish families with different mutations in the xlrs1 gene. Arch Ophthalmol 118 8 (2000) 1098-1104
30. Eliason S.L., Stein C.S., Mao Q., et al. A knock-in reporter model of Batten disease. J Neurosci 27 37 (2007) 9826-9834
31. Goebel H.H. The neuronal ceroid-lipofuscinoses. Semin Pediatr Neurol 3 4 (1996) 270-278
32. Goebel H.H., Braak H., Seidel D., et al. Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). Clin Neuropathol 1 4 (1982) 151-162
33. Goebel H.H., Fix J.D., and Zeman W. The fine structure of the retina in neuronal ceroid-lipofuscinosis. Am J Ophthalmol 77 1 (1974) 25-39
34. Golabek A.A., Kida E., Walus M., et al. Cln3 protein regulates lysosomal ph and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin d in human cells. Mol Genet Metab 70 3 (2000) 203-213
35. Good W.V., Crain L.S., Quint R.D., et al. Overlooking: A sign of bilateral central scotomata in children. Dev Med Child Neurol 34 1 (1992) 69-73
36. Greene N.D., Bernard D.L., Taschner P.E., et al. A murine model for juvenile NCL: Gene targeting of mouse cln3. Mol Genet Metab 66 4 (1999) 309-313
37. Greene N.D., Lythgoe M.F., Thomas D.L., et al. High resolution mri reveals global changes in brains of cln3 mutant mice. Eur J Paediatr Neurol 5 Suppl A (2001) 103-107
38. Gupta P., Soyombo A.A., Atashband A., et al. Disruption of ppt1 or ppt2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci USA 98 24 (2001) 13566-13571
39. Hobert J.A., and Dawson G. A novel role of the batten disease gene cln3: Association with bmp synthesis. Biochem Biophys Res Commun 358 1 (2007) 111-116
40. Hofman I.K.A., Santavuori P., Gottlob I., et al. The Neuronal Ceroid Lipofuscinoses (Batten Disease) (1999), IOS Press, Amsterdam, The Netherlands
41. Horiguchi M., and Miyake Y. Batten disease-deteriorating course of ocular findings. Jpn J Ophthalmol 36 1 (1992) 91-96
42. Houweling P.J., Cavanagh J.A., Palmer D.N., et al. Neuronal ceroid lipofuscinosis in devon cattle is caused by a single base duplication (c. 662dupg) in the bovine cln5 gene. Biochim Biophys Acta 1762 10 (2006) 890-897
43. Inan C., Wong D., Wisniewski K.E., et al. First African-American child with juvenile neuronal ceroid lipofuscinosis. Am J Med Genet 79 5 (1998) 335-336
44. Katz M.L., Gao C.L., Prabhakaram M., et al. Immunochemical localization of the Batten disease (cln3) protein in retina. Invest Ophthalmol Vis Sci 38 11 (1997) 2375-2386
45. Katz M.L., and Johnson G.S. Mouse gene knockout models for the cln2 and cln3 forms of ceroid lipofuscinosis. Eur J Paediatr Neurol 5 Suppl A (2001) 109-114
46. Katz M.L., Johnson G.S., Tullis G.E., et al. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiol Dis 29 2 (2008) 242-253
47. Katz M.L., Shibuya H., Liu P.C., et al. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (batten disease). J Neurosci Res 57 4 (1999) 551-556
48. Kopra O., Vesa J., von Schantz C., et al. A mouse model for finnish variant late infantile neuronal ceroid lipofuscinosis, cln5, reveals neuropathology associated with early aging. Hum Mol Genet 13 23 (2004) 2893-2906
49. Kovacs A.D., and Pearce D.A. Attenuation of ampa receptor activity improves motor skills in a mouse model of juvenile batten disease. Exp Neurol 209 1 (2008) 288-291
50. Kovacs A.D., Weimer J.M., and Pearce D.A. Selectively increased sensitivity of cerebellar granule cells to ampa receptor-mediated excitotoxicity in a mouse model of Batten disease. Neurobiol Dis 22 3 (2006) 575-585
51. Lee R.L., Johnson K.R., and Lerner T.J. Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene cln3. Genomics 35 3 (1996) 617-619
52. Lim M.J., Alexander N., Benedict J.W., et al. IGG entry and deposition are components of the neuroimmune response in batten disease. Neurobiol Dis 25 2 (2007) 239-251
53. Lim M.J., Beake J., Bible E., et al. Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis. Neuropathol Appl Neurobiol 32 5 (2006) 469-482
54. Lonka L., Kyttala A., Ranta S., et al. The neuronal ceroid lipofuscinosis cln8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 9 11 (2000) 1691-1697
55. Luiro K., Yliannala K., Ahtiainen L., et al. Interconnections of cln3, hook1 and rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet 13 23 (2004) 3017-3027
56. Mantel I., Brantley Jr. M.A., Bellmann C., et al. Juvenile neuronal ceroid lipofuscinosis (Batten disease) cln3 mutation (chrom 16p11. 2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. Klin Monatsbl Augenheilkd 221 5 (2004) 427-430
57. Marshall F.J., de Blieck E.A., Mink J.W., et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 65 2 (2005) 275-279
58. Mitchison H.M., Bernard D.J., Greene N.D., et al. Targeted disruption of the cln3 gene provides a mouse model for Batten disease. The Batten mouse model consortium. [corrected]. Neurobiol Dis 6 5 (1999) 321-334
59. Mitchison H.M., Lim M.J., and Cooper J.D. Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol 14 1 (2004) 86-96
60. Mole S.E., Mitchison H.M., and Munroe P.B. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in cln1, cln2, cln3, and cln5. Hum Mutat 14 3 (1999) 199-215
61. Mole S.E., Zhong N.A., Sarpong A., et al. New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Paediatr Neurol 5 Suppl A (2001) 7-10
62. Munroe P.B., Mitchison H.M., O'Rawe A.M., et al. Spectrum of mutations in the Batten disease gene, cln3. Am J Hum Genet 61 2 (1997) 310-316
63. Munroe P.B., Rapola J., Mitchison H.M., et al. Prenatal diagnosis of Batten's disease. Lancet 347 9007 (1996) 1014-1015
64. Nardocci N., Verga M.L., Binelli S., et al. Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. Am J Med Genet 57 2 (1995) 137-141
65. Nijssen P.C., Ceuterick C., van Diggelen O.P., et al. Autosomal dominant adult neuronal ceroid lipofuscinosis: A novel form of ncl with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol 13 4 (2003) 574-581
66. Osorio N.S., Carvalho A., Almeida A.J., et al. Nitric oxide signaling is disrupted in the yeast model for Batten disease. Mol Biol Cell 18 7 (2007) 2755-2767
67. Padilla-Lopez S., and Pearce D.A. Saccharomyces cerevisiae lacking btn1p modulate vacuolar atpase activity to regulate ph imbalance in the vacuole. J Biol Chem 281 15 (2006) 10273-10280
68. Palmer D.N., Bayliss S.L., and Westlake V.J. Batten disease and the atp synthase subunit c turnover pathway: Raising antibodies to subunit c. Am J Med Genet 57 2 (1995) 260-265
69. Pearce D.A. Localization and processing of cln3, the protein associated to Batten disease: where is it and what does it do?. J Neurosci Res 59 1 (2000) 19-23
70. Pearce D.A., Atkinson M., and Tagle D.A. Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders. Neurology 63 11 (2004) 2001-2005
71. Pearce D.A., Carr C.J., Das B., et al. Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease. Proc Natl Acad Sci USA 96 20 (1999) 11341-11345
72. Pearce D.A., Ferea T., Nosel S.A., et al. Action of btn1, the yeast orthologue of the gene mutated in Batten disease. Nat Genet 22 1 (1999) 55-58
73. Pearce D.A., Nosel S.A., and Sherman F. Studies of ph regulation by btn1p, the yeast homolog of human cln3p. Mol Genet Metab 66 4 (1999) 320-323
74. Persaud-Sawin D.A., and Boustany R.M. Cell death pathways in juvenile Batten disease. Apoptosis 10 5 (2005) 973-985
75. Phillips S.N., Benedict J.W., Weimer J.M., et al. Cln3, the protein associated with Batten disease: Structure, function and localization. J Neurosci Res 79 5 (2005) 573-583
76. Pontikis C.C., Cella C.V., Parihar N., et al. Late onset neurodegeneration in the cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res 1023 2 (2004) 231-242
77. Ranta S., Zhang Y., Ross B., et al. The neuronal ceroid lipofuscinoses in human epmr and mnd mutant mice are associated with mutations in cln8. Nat Genet 23 2 (1999) 233-236
78. Read W.K., and Bridges C.H. Neuronal lipodystrophy. Occurrence in an inbred strain of cattle. Pathol Vet 6 3 (1969) 235-243
79. Rider J.A., and Rider D.L. Batten disease: Past, present, and future. Am J Med Genet 5 (1988) 21-26
80. Rinne J.O., Ruottinen H.M., Nagren K., et al. Positron emission tomography shows reduced striatal dopamine d1 but not d2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 33 3 (2002) 138-141
81. Rothberg P.G., Ramirez-Montealegre D., Frazier S.D., et al. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in cln3 that causes Batten disease. J Mol Diagn 6 3 (2004) 260-263
82. Ruther K., Gal A., and Kohlschutter A. [The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]. Klin Monatsbl Augenheilkd 223 6 (2006) 542-544
83. Santavuori P., Lauronen L., Kirveskari E., et al. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 21 3 Suppl (2000) S35-S41
84. Sappington R.M., Pearce D.A., and Calkins D.J. Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 44 9 (2003) 3725-3731
85. Seehafer S.S., and Pearce D.A. You say lipofuscin, we say ceroid: defining autofluorescent storage material. Neurobiol Aging 27 4 (2006) 576-588
86. Seeliger M., Ruther K., Apfelstedt-Sylla E., et al. [Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings]. Ophthalmologe 94 8 (1997) 557-562
87. Seigel G.M., Lotery A., Kummer A., et al. Retinal pathology and function in a cln3 knockout mouse model of juvenile neuronal ceroid lipofuscinosis (Batten disease). Mol Cell Neurosci 19 4 (2002) 515-527
88. Shacka J.J., Klocke B.J., Young C., et al. Cathepsin d deficiency induces persistent neurodegeneration in the absence of bax-dependent apoptosis. J Neurosci 27 8 (2007) 2081-2090
89. Shacka J.J., and Roth K.A. Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses. Am J Pathol 167 6 (2005) 1473-1476
90. Sleat D.E., Wiseman J.A., El-Banna M., et al. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the cln2 gene results in a loss of tripeptidyl-peptidase i activity and progressive neurodegeneration. J Neurosci 24 41 (2004) 9117-9126
91. Spalton D.J., Taylor D.S., and Sanders M.D. Juvenile Batten's disease: an ophthalmological assessment of 26 patients. Br J Ophthalmol 64 10 (1980) 726-732
92. Taratuto A.L., Saccoliti M., Sevlever G., et al. Childhood neuronal ceroid-lipofuscinoses in Argentina. Am J Med Genet 57 2 (1995) 144-149
93. Traboulsi E.I., Green W.R., Luckenbach M.W., et al. Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms. Graefes Arch Clin Exp Ophthalmol 225 6 (1987) 391-402
94. Uvebrant P., and Hagberg B. Neuronal ceroid lipofuscinoses in scandinavia. Epidemiology and clinical pictures. Neuropediatrics 28 1 (1997) 6-8
95. Weimer J.M., Benedict J.W., Elshatory Y.M., et al. Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res 1162 (2007) 98-112
96. Weimer J.M., Custer A.W., Benedict J.W., et al. Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol Dis 22 2 (2006) 284-293
97. Weleber R.G. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye 12 Pt 3B (1998) 580-590
98. Westlake V.J., Jolly R.D., Bayliss S.L., et al. Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial atp synthase. Am J Med Genet 57 2 (1995) 177-181
99. Williams R.E., Aberg L., Autti T., et al. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 1762 10 (2006) 865-872