Advances in the treatment of neuronal ceroid lipofuscinosis

Bibliography

• Cooper JD. The neuronal ceroid lipofuscinoses: the same, but different? Biochem Soc Trans 2010;38:1448-52
   PubMed Web of Science ®Google Scholar
• Glees P, Hasan M. Lipofuscin in neuronal aging and diseases. Norm Pathol Anat (Stuttg) 1976;32:1-68
   PubMedGoogle Scholar
• Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009;1793:697-709
   PubMed Web of Science ®Google Scholar
• Palmer DN, Martinus RD, Cooper SM, et al. Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence. J Biol Chem 1989;264:5736-40
   PubMed Web of Science ®Google Scholar
• Tyynela J, Palmer DN, Baumann M, Haltia M. Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett 1993;330:8-12
   PubMed Web of Science ®Google Scholar
• Zeman W, Dyken P. Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 1969;44:570-83
   PubMed Web of Science ®Google Scholar
• Anderson GW, Goebel HH, Simonati A. Human pathology in NCL. Biochim Biophys Acta 2013;1832:1807-26
   PubMed Web of Science ®Google Scholar
• Cotman SL, Staropoli JF. The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin Lipidol 2012;7:79-91
   PubMed Web of Science ®Google Scholar
• Levine AS, Lemieux B, Brunning R, et al. Ceroid accumulation in a patient with progressive neurological disease. Pediatrics 1968;42:583-91
   PubMed Web of Science ®Google Scholar
• Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 1988;10:80-3
   PubMed Web of Science ®Google Scholar
• Palmer DN, Barry LA, Tyynela J, Cooper JD. NCL disease mechanisms. Biochim Biophys Acta 2013;1832:1882-93
   PubMed Web of Science ®Google Scholar
• Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003;62:1-13
   PubMed Web of Science ®Google Scholar
• Kmoch S, Stranecky V, Emes RD, Mitchison HM. Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2013;1832:1831-41
   PubMed Web of Science ®Google Scholar
• Kohan R, Cismondi IA, Oller-Ramirez AM, et al. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Curr Pharm Biotechnol 2011;12:867-83
   PubMed Web of Science ®Google Scholar
• Hobert JA, Dawson G. Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta 2006;1762:945-53
   PubMed Web of Science ®Google Scholar
• Schulz A, Kohlschutter A, Mink J, et al. NCL diseases - clinical perspectives. Biochim Biophys Acta 2013;1832:1801-6
   PubMed Web of Science ®Google Scholar
• Augestad LB, Flanders WD. Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway. J Child Neurol 2006;21:917-22
   PubMed Web of Science ®Google Scholar
• Cardona F, Rosati E. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study. Am J Med Genet 1995;57:142-3
   PubMed Web of Science ®Google Scholar
• Mole SE, Williams RE, Goebel HH. The neuronal ceroid lipofucinosis. 2nd edition. Oxford University Press; USA: 2011
   Google Scholar
• Zeman W. The neuronal ceroid lipofuscinoses. In: Zimmerman H, editor. Progress in neuropathology. Grune and Stratton; New York: 1976. p. 203-23
   Google Scholar
• Warrier V, Vieira M, Mole SE. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochim Biophys Acta 2013;1832:1827-30
   PubMed Web of Science ®Google Scholar
• Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat 2012;33:42-63
   PubMed Web of Science ®Google Scholar
• Kyttala A, Lahtinen U, Braulke T, Hofmann SL. Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta 2006;1762:920-33
   PubMed Web of Science ®Google Scholar
• Haltia M, Goebel HH. The neuronal ceroid-lipofuscinoses: a historical introduction. Biochim Biophys Acta 2013;1832:1795-800
   PubMed Web of Science ®Google Scholar
• Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005;6:107-26
   PubMed Web of Science ®Google Scholar
• Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci 2011;68:453-74
   PubMed Web of Science ®Google Scholar
• Poet M, Kornak U, Schweizer M, et al. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci USA 2006;103:13854-9
   PubMed Web of Science ®Google Scholar
• Pangrazio A, Pusch M, Caldana E, et al. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat 2010;31:E1071-80
   Web of Science ®Google Scholar
• Kasper D, Planells-Cases R, Fuhrmann JC, et al. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J 2005;24:1079-91
   PubMed Web of Science ®Google Scholar
• Frattini A, Pangrazio A, Susani L, et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003;18:1740-7
   PubMed Web of Science ®Google Scholar
• Mole SE, Williams RE, Cooper JD. Special issue: molecular basis of the NCLs. Biochim Biophys Acta 2013;1832:1793-4
   PubMed Web of Science ®Google Scholar
• Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 2012;79:183-91
   PubMed Web of Science ®Google Scholar
• Sleat DE, Wiseman JA, 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 2004;24:9117-26
   PubMed Web of Science ®Google Scholar
• Shacka JJ. Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. Brain Res Bull 2012;88:43-57
   PubMed Web of Science ®Google Scholar
• Cotman SL, Vrbanac V, Lebel LA, et al. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet 2002;11:2709-21
   PubMed Web of Science ®Google Scholar
• Bond M, Holthaus SM, Tammen I, et al. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 2013;1832:1842-65
   PubMed Web of Science ®Google Scholar
• Staropoli JF, Haliw L, Biswas S, et al. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS ONE 2012;7:e38310
   PubMed Web of Science ®Google Scholar
• Vaquer G, Riviere F, Mavris M, et al. Animal models for metabolic, neuromuscular and ophthalmological rare diseases. Nat Rev Drug Discov 2013;12:287-305
   PubMed Web of Science ®Google Scholar
• Abbott NJ, Patabendige AA, Dolman DE, et al. Structure and function of the blood-brain barrier. Neurobiol Dis 2010;37:13-25
   PubMed Web of Science ®Google Scholar
• Abbott NJ. Blood-brain barrier structure and function and the challenges for CNS drug delivery. J Inherit Metab Dis 2013;36:437-49
   PubMed Web of Science ®Google Scholar
• Beck M. Therapy for lysosomal storage disorders. IUBMB Life 2010;62:33-40
   PubMed Web of Science ®Google Scholar
• Hawkins-Salsbury JA, Cooper JD, Sands MS. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys Acta 2013;1832:1906-9
   PubMed Web of Science ®Google Scholar
• Cialone J, Augustine EF, Newhouse N, et al. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology 2011;77:1808-11
   PubMed Web of Science ®Google Scholar
• Dyke JP, Sondhi D, Voss HU, et al. Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. AJNR Am J Neuroradiol 2013;34:884-9
   PubMed Web of Science ®Google Scholar
• Kwon JM, Adams H, Rothberg PG, et al. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology 2011;77:1801-7
   PubMed Web of Science ®Google Scholar
• Steinfeld R, Heim P, von GH, et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 2002;112:347-54
   PubMed Web of Science ®Google Scholar
• Worgall S, Kekatpure MV, Heier L, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology 2007;69:521-35
   PubMed Web of Science ®Google Scholar
• Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet 2012;13:307-35
   PubMed Web of Science ®Google Scholar
• Kollmann K, Uusi-Rauva K, Scifo E, et al. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta 2013;1832:1866-81
   PubMed Web of Science ®Google Scholar
• Byrne BJ, Falk DJ, Clement N, Mah CS. Gene therapy approaches for lysosomal storage disease: next-generation treatment. Hum Gene Ther 2012;23:808-15
   PubMed Web of Science ®Google Scholar
• van Gelder CM, Vollebregt AA, Plug I, et al. Treatment options for lysosomal storage disorders: developing insights. Expert Opin Pharmacother 2012;13:2281-99
   PubMed Web of Science ®Google Scholar
• Lu JY, Hu J, Hofmann SL. Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. Mol Genet Metab 2010;99:374-8
   PubMed Web of Science ®Google Scholar
• Lindvall O, Kokaia Z. Stem cells for the treatment of neurological disorders. Nature 2006;441:1094-6
   PubMed Web of Science ®Google Scholar
• Aboody K, Capela A, Niazi N, et al. Translating stem cell studies to the clinic for CNS repair: current state of the art and the need for a Rosetta stone. Neuron 2011;70:597-613
   PubMed Web of Science ®Google Scholar
• Chaudhuri A, Bhattacharya N. Human neural stem cell transplants in neurological disorders: current trends and future options. In: Bhattacharya N, Stubblefield P, editors. Human fetal tissue transplantation. Springer-Verlag; London: 2013. p. 265-8
   Google Scholar
• Jin HK, Carter JE, Huntley GW, Schuchman EH. Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. J Clin Invest 2002;109:1183-91
   PubMed Web of Science ®Google Scholar
• Heldermon CD, Ohlemiller KK, Herzog ED, et al. Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB. Mol Ther 2010;18:873-80
   PubMed Web of Science ®Google Scholar
• Buchet D, Serguera C, Zennou V, et al. Long-term expression of beta-glucuronidase by genetically modified human neural progenitor cells grafted into the mouse central nervous system. Mol Cell Neurosci 2002;19:389-401
   PubMed Web of Science ®Google Scholar
• Biffi A, De PM, Quattrini A, et al. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest 2004;113:1118-29
   PubMed Web of Science ®Google Scholar
• Bowers WJ, Breakefield XO, Sena-Esteves M. Genetic therapy for the nervous system. Hum Mol Genet 2011;20:R28-41
   PubMed Web of Science ®Google Scholar
• Tyynela J, Cooper JD, Khan MN, et al. Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation. Brain Pathol 2004;14:349-57
   PubMed Web of Science ®Google Scholar
• Tsuji D, Itoh K. Molecular therapy for lysosomal storage diseases. In: Molina FM, editor. Gene therapy - tools and potential applications. InTech, Rijeka, Croatia; 2013. p. 591-607
   Google Scholar
• Gray SJ. Gene therapy and neurodevelopmental disorders. Neuropharmacology 2013;68:136-42
   PubMed Web of Science ®Google Scholar
• Chtarto A, Bockstael O, Tshibangu T, et al. A next step in adeno-associated virus (AAV)-mediated gene therapy for neurological diseases: regulation and targeting. Br J Clin Pharmacol 2013;76:217-32
   PubMed Web of Science ®Google Scholar
• Weinberg MS, Samulski RJ, McCown TJ. Adeno-associated virus (AAV) gene therapy for neurological disease. Neuropharmacology 2013;69:82-8
   PubMed Web of Science ®Google Scholar
• Cearley CN, Wolfe JH. Transduction characteristics of adeno-associated virus vectors expressing cap serotypes 7, 8, 9, and Rh10 in the mouse brain. Mol Ther 2006;13:528-37
   PubMed Web of Science ®Google Scholar
• Cearley CN, Vandenberghe LH, Parente MK, et al. Expanded repertoire of AAV vector serotypes mediate unique patterns of transduction in mouse brain. Mol Ther 2008;16:1710-18
   PubMed Web of Science ®Google Scholar
• Fu H, Dirosario J, Killedar S, et al. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther 2011;19:1025-33
   PubMed Web of Science ®Google Scholar
• Foust KD, Nurre E, Montgomery CL, et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol 2009;27:59-65
   PubMed Web of Science ®Google Scholar
• Chen YH, Claflin K, Geoghegan JC, Davidson BL. Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. Mol Ther 2012;20:1393-9
   PubMed Web of Science ®Google Scholar
• High KA. The gene therapy journey for hemophilia: are we there yet? Blood 2012;120:4482-7
   PubMed Web of Science ®Google Scholar
• Gray SJ, Nagabhushan KS, McCown TJ, Jude SR. Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates. Gene Ther 2013;20:450-9
   PubMed Web of Science ®Google Scholar
• Sondhi D, Hackett NR, Kaminsky SM, Crystal RG. Setting back the clock: adenoviral-mediated gene therapy for lysosomal storage disorders. In: Barranger JA, Cabrera-Salazar MA, editors. Lysosomal storage disorders. Springer Science and Business Media, LLC; New York: 2007. p. 81-95
   Google Scholar
• Shevtsova Z, Garrido M, Weishaupt J, et al. CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis. Am J Pathol 2010;177:271-9
   PubMed Web of Science ®Google Scholar
• Griffey MA, Wozniak D, Wong M, et al. CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol Ther 2006;13:538-47
   PubMed Web of Science ®Google Scholar
• Cabrera-Salazar MA, Roskelley EM, Bu J, et al. Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease. Mol Ther 2007;15:1782-8
   PubMed Web of Science ®Google Scholar
• Boutin S, Monteilhet V, Veron P, et al. Prevalence of serum IgG and neutralizing factors against adeno-associated virus (AAV) types 1, 2, 5, 6, 8, and 9 in the healthy population: implications for gene therapy using AAV vectors. Hum Gene Ther 2010;21:704-12
   PubMed Web of Science ®Google Scholar
• Hofmann SL, Lee LA, Lu JY, Verkruyse LA. Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis. Neuropediatrics 1997;28:27-30
   PubMed Web of Science ®Google Scholar
• Zeidman R, Jackson CS, Magee AI. Protein acyl thioesterases (Review). Mol Membr Biol 2009;26:32-41
   PubMed Web of Science ®Google Scholar
• Zhang Z, Butler JD, Levin SW, et al. Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med 2001;7:478-84
   PubMed Web of Science ®Google Scholar
• Russo E, Gitto R, Citraro R, et al. New AMPA antagonists in epilepsy. Expert Opin Investig Drugs 2012;21:1371-89
   PubMed Web of Science ®Google Scholar
• Zarate CA Jr, Manji HK. The role of AMPA receptor modulation in the treatment of neuropsychiatric diseases. Exp Neurol 2008;211:7-10
   PubMed Web of Science ®Google Scholar
• Klawe C, Maschke M. Flupirtine: pharmacology and clinical applications of a nonopioid analgesic and potentially neuroprotective compound. Expert Opin Pharmacother 2009;10:1495-500
   PubMed Web of Science ®Google Scholar
• Harish S, Bhuvana K, Bengalorkar GM, Kumar T. Flupirtine: clinical pharmacology. J Anaesthesiol Clin Pharmacol 2012;28:172-7
   PubMedGoogle Scholar
• Riikonen R, Vanhanen SL, Tyynela J, et al. CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis. Neurology 2000;54:1828-32
   PubMed Web of Science ®Google Scholar
• Cialone J, Augustine EF, Newhouse N, et al. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. J Inherit Metab Dis 2011;34:1075-81
   PubMed Web of Science ®Google Scholar
• Mitchison HM, Lim MJ, Cooper JD. Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol 2004;14:86-96
   PubMed Web of Science ®Google Scholar
• Zeman RJ, Peng H, Etlinger JD. Clenbuterol retards loss of motor function in motor neuron degeneration mice. Exp Neurol 2004;187:460-7
   PubMed Web of Science ®Google Scholar
• Semkova I, Schilling M, Henrich-Noack P, et al. Clenbuterol protects mouse cerebral cortex and rat hippocampus from ischemic damage and attenuates glutamate neurotoxicity in cultured hippocampal neurons by induction of NGF. Brain Res 1996;717:44-54
   PubMed Web of Science ®Google Scholar
• Frerichs O, Fansa H, Ziems P, et al. Regeneration of peripheral nerves after clenbuterol treatment in a rat model. Muscle Nerve 2001;24:1687-91
   PubMed Web of Science ®Google Scholar
• Aberg L, Talling M, Harkonen T, et al. Intermittent prednisolone and autoantibodies to GAD65 in juvenile neuronal ceroid lipofuscinosis. Neurology 2008;70:1218-20
   PubMed Web of Science ®Google Scholar
• Lim MJ, Alexander N, Benedict JW, et al. IgG entry and deposition are components of the neuroimmune response in Batten disease. Neurobiol Dis 2007;25:239-51
   PubMed Web of Science ®Google Scholar
• Chattopadhyay S, Ito M, Cooper JD, et al. An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet 2002;11:1421-31
   PubMed Web of Science ®Google Scholar
• Pearce DA, Atkinson M, Tagle DA. Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders. Neurology 2004;63:2001-5
   PubMed Web of Science ®Google Scholar
• Nangia S, Caraballo RH, Kang HC, et al. Is the ketogenic diet effective in specific epilepsy syndromes? Epilepsy Res 2012;100:252-7
   PubMed Web of Science ®Google Scholar
• Neal EG, Chaffe H, Schwartz RH, et al. The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. Lancet Neurol 2008;7:500-6
   PubMed Web of Science ®Google Scholar
• Clausen J, Jensen GE, Nielsen SA. Selenium in chronic neurologic diseases. Multiple sclerosis and Batten's disease. Biol Trace Elem Res 1988;15:179-203
   PubMed Web of Science ®Google Scholar
• Naidu S, Maumanee I, Olson J, et al. Selenium treatment in neuronal ceroid-lipofuscinosis. Am J Med Genet Suppl 1988;5:283-9
   PubMedGoogle Scholar
• Westermarck T. Selenium content of tissues in Finnish infants and adults with various diseases, and studies on the effects of selenium supplementation in neuronal ceroid lipofuscinosis patients. Acta Pharmacol Toxicol (Copenh) 1977;41:121-8
   PubMedGoogle Scholar
• Westermarck T, Sandholm M. Decreased erythrocyte glutathione peroxidase activity in neuronal lipofuscinosis (NCL) - corrected with selenium supplementation. Acta Pharmacol Toxicol (Copenh) 1977;40:70-4
   PubMedGoogle Scholar
• Macauley SL, Roberts MS, Wong AM, et al. Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis. Ann Neurol 2012;71:797-804
   PubMed Web of Science ®Google Scholar
• Roberts MS, Macauley SL, Wong AM, et al. Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis. J Inherit Metab Dis 2012;35:847-57
   PubMed Web of Science ®Google Scholar
• Hu J, Lu JY, Wong AM, et al. Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. Mol Genet Metab 2012;107:213-21
   PubMed Web of Science ®Google Scholar
• Tamaki SJ, Jacobs Y, Dohse M, et al. Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. Cell Stem Cell 2009;5:310-19
   PubMed Web of Science ®Google Scholar
• Selden NR, Al-Uzri A, Huhn SL, et al. Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr 2013;11:643-52
   PubMed Web of Science ®Google Scholar
• Lonnqvist T, Vanhanen SL, Vettenranta K, et al. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology 2001;57:1411-16
   PubMed Web of Science ®Google Scholar
• Lake BD, Steward CG, Oakhill A, et al. Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. Neuropediatrics 1997;28:80-1
   PubMed Web of Science ®Google Scholar
• Shaw G. Neural stem cells appear to produce myelin in brains of boys with rare genetic disorder. Neurology Today 2012;12: 1, 10-12
   PubMed Web of Science ®Google Scholar
• Griffey M, Bible E, Vogler C, et al. Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004;16:360-9
   PubMed Web of Science ®Google Scholar
• Griffey M, Macauley SL, Ogilvie JM, Sands MS. AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol Ther 2005;12:413-21
   PubMed Web of Science ®Google Scholar
• Gavin M, Wen GY, Messing J, et al. Substrate reduction therapy in four patients with milder CLN1 mutations and juvenile-onset Batten disease using cysteamine bitartrate. JIMD Rep 2013;11:87-92
   PubMedGoogle Scholar
• Dhar S, Bitting RL, Rylova SN, et al. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic. Ann Neurol 2002;51:448-66
   PubMed Web of Science ®Google Scholar
• Kim SJ, Zhang Z, Hitomi E, et al. Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. Hum Mol Genet 2006;15:1826-34
   PubMed Web of Science ®Google Scholar
• Wei H, Kim SJ, Zhang Z, et al. ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet 2008;17:469-77
   PubMed Web of Science ®Google Scholar
• Kim SJ, Zhang Z, Saha A, et al. Omega-3 and omega-6 fatty acids suppress ER- and oxidative stress in cultured neurons and neuronal progenitor cells from mice lacking PPT1. Neurosci Lett 2010;479:292-6
   PubMed Web of Science ®Google Scholar
• Yoon DH, Kwon OY, Mang JY, et al. Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells. Biochem Biophys Res Commun 2011;414:49-52
   PubMed Web of Science ®Google Scholar
• Chang M, Cooper JD, Sleat DE, et al. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 2008;16:649-56
   PubMed Web of Science ®Google Scholar
• Xu S, Wang L, El-Banna M, et al. Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 2011;19:1842-8
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Katz ML, Coates JR, et al. Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Mol Genet Metab 2011;104:325-37
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Kennedy D, Tsuruda LS, et al. Nonclinical development of TPP1 enzyme replacement therapy for NCL2. Eurpean Paediatric Neurology Society 2013; Brussels, September 25-28, 2013
   Google Scholar
• Meng Y, Sohar I, Wang L, et al. Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. PLoS ONE 2012;7:e40509
   PubMed Web of Science ®Google Scholar
• Haskell RE, Hughes SM, Chiorini JA, et al. Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system. Gene Ther 2003;10:34-42
   PubMed Web of Science ®Google Scholar
• Sondhi D, Hackett NR, Peterson DA, et al. Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector. Mol Ther 2007;15:481-91
   PubMed Web of Science ®Google Scholar
• Sondhi D, Peterson DA, Edelstein AM, et al. Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis. Exp Neurol 2008;213:18-27
   PubMed Web of Science ®Google Scholar
• Passini MA, Dodge JC, Bu J, et al. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci 2006;26:1334-42
   PubMed Web of Science ®Google Scholar
• Sondhi D, Johnson L, Purpura K, et al. Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. Hum Gene Ther Methods 2012;23:324-35
   PubMed Web of Science ®Google Scholar
• Souweidane MM, Fraser JF, Arkin LM, et al. Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. J Neurosurg Pediatr 2010;6:115-22
   PubMed Web of Science ®Google Scholar
• Sondhi D, Hackett NR, Scott E, et al. Correction of the lysosomal storage defect in mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal injection of AAV serotype rh.10 vector expressing the human CLN3 gene. Mol Ther 2011;19:S78
   Google Scholar
• Kovacs AD, Weimer JM, Pearce DA. Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. Neurobiol Dis 2006;22:575-85
   PubMed Web of Science ®Google Scholar
• Kovacs AD, Pearce DA. Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. Exp Neurol 2008;209:288-91
   PubMed Web of Science ®Google Scholar
• Kovacs AD, Saje A, Wong A, et al. Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. Neuropharmacology 2011;60:405-9
   PubMed Web of Science ®Google Scholar
• Hawkins-Salsbury JA, Reddy AS, Sands MS. Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? Hum Mol Genet 2011;20:R54-60
   Web of Science ®Google Scholar
• Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 2005;65:275-9
   PubMed Web of Science ®Google Scholar
• Downing HJ, Pirmohamed M, Beresford MW, Smyth RL. Paediatric use of mycophenolate mofetil. Br J Clin Pharmacol 2013;75:45-59
   PubMed Web of Science ®Google Scholar
• Bennett MJ, Gayton AR, Rittey CD, Hosking GP. Juvenile neuronal ceroid-lipofuscinosis: developmental progress after supplementation with polyunsaturated fatty acids. Dev Med Child Neurol 1994;36:630-8
   PubMed Web of Science ®Google Scholar
• Santavuori P, Westermarck T, Rapola J, et al. Antioxidant treatment in Spielmeyer-Sjogren's disease. Acta Neurol Scand 1985;71:136-45
   PubMed Web of Science ®Google Scholar
• Santavuori P, Moren R. Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjogren type. Neuropadiatrie 1977;8:333-44
   PubMedGoogle Scholar
• Linterman KS, Palmer DN, Kay GW, et al. Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in Batten disease. Hum Gene Ther 2011;22:1011-20
   PubMed Web of Science ®Google Scholar
• Deeg HJ, Shulman HM, Albrechtsen D, et al. Batten's disease: failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model. Clin Genet 1990;37:264-70
   PubMed Web of Science ®Google Scholar
• Lipman RD, Donohue LR, Hoppe P, Bronson RT. 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 1996;219:111-14
   PubMed Web of Science ®Google Scholar
• Elger B, Schneider M, Winter E, et al. Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. ChemMedChem 2006;1:1142-8
   PubMed Web of Science ®Google Scholar
• Cooper JD, Messer A, Feng AK, et al. Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J Neurosci 1999;19:2556-67
   PubMed Web of Science ®Google Scholar
• Taylor JM, Main BS, Crack PJ. Neuroinflammation and oxidative stress: co-conspirators in the pathology of Parkinson's disease. Neurochem Int 2013;62:803-19
   PubMed Web of Science ®Google Scholar
• Bertamini M, Marzani B, Guarneri R, et al. Mitochondrial oxidative metabolism in motor neuron degeneration (mnd) mouse central nervous system. Eur J Neurosci 2002;16:2291-6
   PubMed Web of Science ®Google Scholar
• Siakotos AN, Hutchins GD, Farlow MR, Katz ML. Assessment of dietary therapies in a canine model of Batten disease. Eur J Paediatr Neurol 2001;5 Suppl A:151-6
   PubMedGoogle Scholar
• Saftig P, Hetman M, Schmahl W, et al. Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. EMBO J 1995;14:3599-608
   PubMed Web of Science ®Google Scholar
• Pike LS, Tannous BA, Deliolanis NC, et al. Imaging gene delivery in a mouse model of congenital neuronal ceroid lipofuscinosis. Gene Ther 2011;18:1173-8
   PubMed Web of Science ®Google Scholar
• Freedman R, Sahhar M, Curnow L, et al. Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families. J Genet Couns 2013;22:517-32
   PubMed Web of Science ®Google Scholar
• Lindvall O. Why is it taking so long to develop clinically competitive stem cell therapies for CNS disorders? Cell Stem Cell 2012;10:660-2
   PubMed Web of Science ®Google Scholar
• Kim SU, Lee HJ, Kim YB. Neural stem cell-based treatment for neurodegenerative diseases. Neuropathology 2013
   Web of Science ®Google Scholar
• Kirkegaard T. Emerging therapies and therapeutic concepts for lysosomal storage diseases. Exp Opin Orphan Drugs 2013;1:385-404
   Web of Science ®Google Scholar
• Wang J, Lozier J, Johnson G, et al. Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 2008;26:901-8
   PubMed Web of Science ®Google Scholar
• Hess P. Intracranial stem cell-based transplantation:reconsidering the ethics of phase 1 clinical trials in light of irreversible interventions in the brain. AJOB Neuroscience 2012;3:3-13
   Google Scholar
• Wong AM, Rahim AA, Waddington SN, Cooper JD. Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. Biochem Soc Trans 2010;38:1484-8
   PubMed Web of Science ®Google Scholar
• Shihabuddin LS, Aubert I. Stem cell transplantation for neurometabolic and neurodegenerative diseases. Neuropharmacology 2010;58:845-54
   PubMed Web of Science ®Google Scholar
• Miller N. Glybera and the future of gene therapy in the European Union. Nat Rev Drug Discov 2012;11:419
   PubMed Web of Science ®Google Scholar
• Lebrun AH, Moll-Khosrawi P, Pohl S, et al. Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med 2011;17:1253-61
   PubMed Web of Science ®Google Scholar
• Dawson G, Schroeder C, Dawson PE. Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. Biochem Biophys Res Commun 2010;395:66-9
   PubMed Web of Science ®Google Scholar
• Sleat DE, El-Banna M, Sohar I, et al. Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. Mol Genet Metab 2008;94:222-33
   PubMed Web of Science ®Google Scholar
• Seehafer SS, Ramirez-Montealegre D, Wong AM, et al. Immunosuppression alters disease severity in juvenile Batten disease mice. J Neuroimmunol 2011;230:169-72
   PubMed Web of Science ®Google Scholar
• Sarkar S, Floto RA, Berger Z, et al. Lithium induces autophagy by inhibiting inositol monophosphatase. J Cell Biol 2005;170:1101-11
   PubMed Web of Science ®Google Scholar
• Mattson MP, Chan SL, Duan W. Modification of brain aging and neurodegenerative disorders by genes, diet, and behavior. Physiol Rev 2002;82:637-72
   PubMed Web of Science ®Google Scholar
• Katz ML, Rice LM, Gao CL. Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis. J Neurosci Res 1997;50:123-32
   PubMed Web of Science ®Google Scholar