3,292
Views
4
CrossRef citations to date
0
Altmetric
Review

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

ORCID Icon, ORCID Icon, , ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 1275-1282 | Received 07 Dec 2020, Accepted 01 Feb 2021, Published online: 04 Mar 2021

References

  • Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, Goebel H, editors. The neuronal ceroid lipofuscinoses (Batten disease). Oxford (UK): Oxford University Press; 2011. p. 80–109. Chapter 7, CLN2 disease.
  • Bennett MJ, Rakheja D. The neuronal ceroid-lipofuscinoses. Dev Disabil Res Rev. 2013;17(3):254–259.
  • Kohlschütter A, Schulz A. CLN2 disease (classic late infantile neuronal ceroid lipofuscinosis). Pediatr Endocrinol Rev. 2016;13(Suppl 1):682–688.
  • Steinfeld R, Heim P, von Gregory H, et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet. 2002;112(4):347–354.
  • Worgall S, Kekatpure MV, Heier L, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007;69(6):521–535.
  • Williams RE, Adams HR, Blohm M, et al. Management strategies for CLN2 disease. Pediatr Neurol. 2017;69:102–112.
  • Nickel M, Simonati A, Jacoby D, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health. 2018; 2(8): 582–590.
  • BioMarin Pharmaceutical Inc; Novato, CA 94949, USA. Cerliponase alfa (Brineura) [prescribing information]. 2017.
  • BioMarin International Limited; Cork, Ireland. Cerliponase alfa (Brineura) [summary of product characteristics]. 2017.
  • Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017 Apr;58(4):512–521.
  • Sharma S, Prasad AN. Inborn errors of metabolism and epilepsy: current understanding, diagnosis, and treatment approaches. Int J Mol Sci. 2017;18(7):1384.
  • van Karnebeek CDM, Sayson B, Lee JJY, et al. Metabolic evaluation of epilepsy: a diagnostic algorithm with focus on treatable conditions. Front Neurol. 2018;9:1016.
  • Campistol J. Epilepsy in inborn errors of metabolism with therapeutic options. Semin Pediatr Neurol. 2016 Nov;23(4):321–331.
  • Mastrangelo M. Actual insights into treatable inborn errors of metabolism causing epilepsy. J Pediatr Neurosci. 2018 Jan-Mar;13(1):13–23.
  • van Karenbeek CDM, Stockler–Ipsiroglu S, Jaggumantri S, et al. Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations. JIMD Rep. 2014;15:1–11.
  • Naasan G, Yabroudi M, Rahi A, et al. Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations. Epileptic Disord. 2009 Dec;11(4):293–300.
  • Stockler S, Plecko B, Gospe SM Jr., et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;Sep-Oct;104(1–2):48–60.
  • Steinfeld R, Grapp M, Kraetzner R, et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354–363.
  • Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain. 2012 Jul;135(Pt 7):2022–2031.
  • Ramaekers V, Sequeira JM, Quadros EV. Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med. 2013 Mar 1;51(3):497–511.
  • Sequeira JM, Ramaekers VT, Quadros EV. The diagnostic utility of folate receptor autoantibodies in blood. Clin Chem Lab Med. 2013 Mar 1;51(3):545–554.
  • McFarland R. Cerebral folate deficiency—mishaps and misdirection. Brain. 2012 Jul;135(Pt 7):2002–2003.
  • Leuzzi V, Mastrangelo M, Battini R, et al. Inborn errors of creatine metabolism and epilepsy. Epilepsia. 2013 Feb;54(2):217–227.
  • De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure. 2013 Dec;22(10):803–811.
  • Kossoff EH, Zupec-Kania BA, Auvin S, et al. Optimal clinical management of children receiving dietary therapies for epilepsy: updated recommendations of the international ketogenic diet study group. Epilepsia Open. 2018 Jun;3(2):175–192.
  • Varesio C, Pasca L, Parravicini S, et al. Quality of life in chronic ketogenic diet treatment: the GLUT1DS population perspective. Nutrients. 2019 Jul 19;11(7):1650.
  • De Giorgis V, Masnada S, Varesio C, et al. Overall cognitive profiles in patients with GLUT1 deficiency syndrome. Brain Behav. 2019 Mar;9(3):e01224.
  • Golabek AA, Kida E, Walus M, et al. Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I. J Biol Chem. 2003;278(9):7135–7145.
  • Teixeira C, Guimarães A, Bessa C, et al. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J Neurol. 2003;250(6):661–667.
  • Claussen M, Heim P, Knispel J, et al. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet. 1992;42(4):536–538.
  • Moore SJ, Buckley DJ, MacMillan A, et al. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet. 2008;74(3):213–222.
  • Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, et al. Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. Dev Med Child Neurol. 2020 Sep 5;62(4):528–530.
  • Schulz A, Kohlschütter A, Mink J, et al. NCL diseases — clinical perspectives. Biochim Biophys Acta. 2013;1832(11):1801–1806.
  • Pérez-Poyato MS, Marfa MP, Abizanda IF, et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013;28(4):470–478.
  • Orlin A, Sondhi D, Witmer MT, et al. Spectrum of ocular manifestations in CLN2-associated Batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. PLoS One. 2013;8(8):e73128.
  • Quagliato EMAB, Rocha DM, Sacai PY, et al. Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype. Arq Bras Oftalmol. 2017;80(4):215–219.
  • Schulz A, Ajayi T, Specchio N, et al. Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med. 2018; 378(20): 1898–1907.
  • Schulz A, De Los Reyes E, Specchio N, et al. Cerliponase alfa for the treatment of CLN2 disease in an expanded patient cohort including children younger than three years. Poster presented at the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism; Rotterdam, Netherlands, September 3–6, 2019.
  • NIH. U.S. National Library of Medicine. ClinicalTrials.gov. Search results for ‘CLN2 disease’ (search performed June 2, 2020 .
  • Hallman-Cooper JL, Gossman W. Cerebral palsy. Treasure Island, FL: StatPearls Publishing; 2019.
  • Mei D, Cetica V, Marini C, et al. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia. 2019 Dec;60(Suppl 3):S2–S7.
  • Anwar A, Saleem S, Patel UK, et al. Dravet syndrome: an overview. Cureus. 2019 Jun 26;11(6):e5006.
  • Tian X, Ye J, Zeng Q, et al. The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Dev Med Child Neurol. 2018 Jun;60(6):566–573.
  • Kelley SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol. 2010 Nov;52(11):988–993.
  • Wiemer-Kruel A, Haberlandt E, Hartmann H, et al. Modified Atkins diet is an effective treatment for children with Doose syndrome. Epilepsia. 2017 Apr;58(4):657–662.
  • Hu T, Zhang Z, Wang J, et al. Chromosomal aberrations in pediatric patients with developmental delay/intellectual disability: a single-center clinical investigation. Biomed Res Int. 2019;2019:9352581.
  • Ahtam B, Link N, Hoff E, et al. Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome. Brain Imaging Behav. 2019 Apr;13(2):430–445.
  • Bernier R, Steinman KJ, Reilly B, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr;18(4):341–349.
  • Verrotti A, Carelli A, Di Genova L, et al. Epilepsy and chromosome 18 abnormalities: a review. Seizure. 2015 Nov;32:78–83.
  • Sunada F, Rash FC, Tam DA. MRI findings in a patient with partial monosomy 10p. J Med Genet. 1998;35(2):159–161.
  • Gao Y, Ma YC, Ju YH, et al. Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review. BMC Pediatr. 2018 Aug 6;18(1):266.
  • Kanungo S, Morton J, Neelakantan M, et al. Mitochondrial disorders. Ann Transl Med. 2018 Dec;6(24):475.
  • Vandana VP, Bindu PS, Sonam K, et al. Speech-language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome. J Pediatr Neurosci. 2015 Jan-Mar;10(1):31–34.
  • Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev. 2005 Mar;27(2):88–94.
  • Vatsa N, Jana NR. UBE3A and its link with autism. Front Mol Neurosci. 2018;11:448.
  • Keller R, Basta R, Salerno L, et al. Autism, epilepsy, and synaptopathies: a not rare association. Neurol Sci. 2017 Aug;38(8):1353–1361.
  • Hodges H, Fealko C, Soares N. Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr. 2020 Feb;9(Suppl 1):S55–S65.
  • Gomez-Ospina N. Arylsulfatase A deficiency. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews® [Internet]. Seattle: WA; 2017; p. 1–25.
  • Orsini JJ, Escolar ML, Wasserstein MP, et al. Krabbe disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle: WA; 2018; p. 1–21.
  • Alobaidy H. Recent advances in the diagnosis and treatment of Niemann-Pick disease type C in children: a guide to early diagnosis for the general pediatrician. Int J Pediatr. 2015;2015:816593.
  • Bahi-Buisson N, Dulac O. Epilepsy in inborn errors of metabolism. Handb Clin Neurol. 2013;111:533–541.
  • Tomatsu S, Pitz S, Hampel U. Ophthalmological findings in mucopolysaccharidoses. J Clin Med. 2019 Sep 14;8(9):1467.
  • Specchio N, Bellusci M, Pietrafusa N, et al. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. Epilepsia. 2017;58(8):1380–1388.
  • Albert DV, Yin H, De Los Reyes EC, et al. Unique characteristics of the photoparoxysmal response in patients with neuronal ceroid lipofuscinosis type 2: can EEG be a biomarker? J Child Neurol. 2016;31(13):1475–1482.
  • Jadav RH, Sinha S, Yasha TC, et al. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol. 2014;50(1):85–95.
  • Löbel U, Sedlacik J, Nickel M, et al. Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression. AJNR Am J Neuroradiol. 2016;37(10):1938–1943.
  • Dyke JP, Sondhi D, Voss HU, et al. Brain region-specific degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis (CLN2 disease). AJNR Am J Neuroradiol. 2016;37(6):1160–1169.
  • Johnson AM, Mandelstam S, Andrews I, et al. Neuronal ceroid lipofuscinosis type 2: an Australian case series. J Paediatr Child Health. 2020 Apr 24;56(8):1210–1218.
  • Fietz M, AlSayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016; 119(1–2): 160–167.
  • Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79(2):183–191.
  • Phillips KA, Deverka PA, Hooker GW, et al. Genetic test availability and spending: where are we now? Where are we going? Health Aff (Millwood). 2018 May;37(5):710–716.
  • Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn. 2015;15(12):1531–1538.
  • Lukacs Z, Nickel M, Murko S, et al. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease. Clin Chim Acta. 2019 May;492:69–71.
  • Amadori E, Scala M, Cereda GS, et al. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project. Ital J Pediatr. 2020 Jul 6;46(1):92.