Aldrich A, Bosch ME, Fallet R, Odvody J, Burkovetskaya M, Rama Rao K et al (2016) Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3). Ann Neurol 80(6):909–923
CAS PubMed PubMed Central Google Scholar
Anderson GW, Goebel HH, Simonati A (2013) Human pathology in NCL. Biochim Biophys Acta 1832(11):1807–1826
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N et al (2021) Management of CLN1 disease: international clinical consensus. Pediatr Neurol 120:38–51
Baekmann C, Handrup MM, Molgaard H, Ejerskov C, Jensen HK, Ostergaard JR (2024) Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH). Orphanet J Rare Dis 19(1):374
CAS PubMed PubMed Central Google Scholar
Barney CC, Hoch J, Byiers B, Dimian A, Symons FJ (2015) A Case-controlled investigation of pain experience and sensory function in neuronal ceroid lipofuscinosis. Clin J Pain 31(11):998–1003
PubMed PubMed Central Google Scholar
Bosch ME, Aldrich A, Fallet R, Odvody J, Burkovetskaya M, Schuberth K et al (2016) Self-Complementary AAV9 gene delivery partially corrects pathology associated with juvenile neuronal ceroid lipofuscinosis (CLN3). J Neurosci 36(37):9669–9682
CAS PubMed PubMed Central Google Scholar
Bosch-Queralt M, Fledrich R, Stassart RM (2023) Schwann cell functions in peripheral nerve development and repair. Neurobiol Dis 176:105952
Burkovetskaya M, Karpuk N, Xiong J, Bosch M, Boska MD, Takeuchi H et al (2014) Evidence for aberrant astrocyte hemichannel activity in juvenile neuronal ceroid lipofuscinosis (JNCL). PLoS ONE 9(4):e95023
PubMed PubMed Central Google Scholar
Cooper JD, Tarczyluk MA, Nelvagal HR (2015) Towards a new Understanding of NCL pathogenesis. Biochim Biophys Acta 1852(10 Pt B):2256–2261
Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR et al (2002) Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet 11(22):2709–2721
Donsante A, Miller DG, Li Y, Vogler C, Brunt EM, Russell DW et al (2007) AAV vector integration sites in mouse hepatocellular carcinoma. Science 317(5837):477
Falk DJ, Todd AG, Lee S, Soustek MS, ElMallah MK, Fuller DD et al (2015) Peripheral nerve and neuromuscular junction pathology in Pompe disease. Hum Mol Genet 24(3):625–636
Griffey MA, Bible E, Vogler C, Levy B, Gupta P, Cooper JD et al (2004) 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 16(2):360–369
Griffey M, Macauley SL, Ogilvie JM, Sands MS (2005) AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol Ther 12(3):413–421
Griffey MA, Wozniak D, Wong M, Bible E, Johnson K, Rothman SM et al (2006) CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol Ther 13(3):538–547
Hachiya Y, Hayashi M, Kumada S, Uchiyama A, Tsuchiya K, Kurata K (2006) Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. Acta Neuropathol 111(2):168–177
Handrup MM, Mølgaard H, Andersen BN, Ostergaard JR (2022) Pacemaker implantation in juvenile neuronal ceroid lipofuscinosis (CLN3)-A Long-Term Follow-Up study. Front Neurol 13:846240
PubMed PubMed Central Google Scholar
Hastings RL, Valdez G (2024) Origin, identity, and function of terminal Schwann cells. Trends Neurosci 47(6):432–446
CAS PubMed PubMed Central Google Scholar
Hunter DA, Moradzadeh A, Whitlock EL, Brenner MJ, Myckatyn TM, Wei CH et al (2007) Binary imaging analysis for comprehensive quantitative histomorphometry of peripheral nerve. J Neurosci Methods 166(1):116–124
PubMed PubMed Central Google Scholar
Hunter DA, Pan D, Wood MD, Snyder-Warwick AK, Moore AM, Feldman EL et al (2020) Design-Based stereology and binary image histomorphometry in nerve assessment. J Neurosci Methods 336:108635
PubMed PubMed Central Google Scholar
Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM (2019) Therapeutic landscape for Batten disease: current treatments and future prospects. Nat Rev Neurol 15:161–178
PubMed PubMed Central Google Scholar
Johnson TB, Brudvig JJ, Likhite S, Pratt MA, White KA, Cain JT et al (2023) Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease. Front Genet 14:1118649. https://doi.org/10.3389/fgene.2023.1118649
CAS PubMed PubMed Central Google Scholar
Kohlschütter A, Schulz A, Bartsch U, Storch S (2019) Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs 33(4):315–325
PubMed PubMed Central Google Scholar
Kovács AD, Saje A, Wong A, Szénási G, Kiricsi P, Szabó E et al (2011) Temporary Inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. Neuropharmacology 60(2–3):405–409
Kovács AD, Saje A, Wong A, Ramji S, Cooper JD, Pearce DA (2012) Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. Neuropharmacology 63(5):769–775
PubMed PubMed Central Google Scholar
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH et al (2022) CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. Nature 609(7929):1005–1011
CAS PubMed PubMed Central Google Scholar
Lerner TJ, Boustany R-M, Anderson JW, D’arigo KL, Schlumpf K, Buckler A et al (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82(6):949–957
Levine AS, Lemieux B, Brunning R, White JG, Sharp HL, Stadlan E et al (1968) Ceroid accumulation in a patient with progressive neurological disease. Pediatrics 42(3):583–591
Lim MJ, Alexander N, Benedict JW, Chattopadhyay S, Shemilt SJ, Guérin CJ et al (2007) IgG entry and deposition are components of the neuroimmune response in Batten disease. Neurobiol Dis 25(2):239–251
Lovering RM, Iyer SR, Edwards B, Davies KE (2020) Alterations of neuromuscular junctions in Duchenne muscular dystrophy. Neurosci Lett 737:135304
CAS PubMed PubMed Central Google Scholar
Macauley SL, Roberts MS, Wong AM, McSloy F, Reddy AS, Cooper JD et al (2012) Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis. Ann Neurol 71(6):797–804
CAS PubMed PubMed Central Google Scholar
Macauley SL, Wong AM, Shyng C, Augner DP, Dearborn JT, Pearse Y et al (2014) An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. J Neurosci 34(39):13077–13082
CAS PubMed PubMed Central Google Scholar
Mannerkoski MK, Heiskala HJ, Santavuori PR, Pouttu JA (2001) Transdermal Fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5(Suppl A):175–177
Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM et al (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol 18:107–116
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S et al (2021) Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J Rare Dis 16(1):185
PubMed PubMed Central Google Scholar
Moro F, Rubegni A, Pochiero F, Mero S, Procopio E, Baldacci J et al (2019) Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report. Neuromuscul Disord 29(1):67–69
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