Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses

References

1. 1.↵
   1. Nita DA,
   2. Mole SE,
   3. Minassian BA

   . Neuronal ceroid lipofuscinoses. Epileptic Disord 2016;18:73–88 doi:10.1684/epd.2016.0844 pmid:27629553

   CrossRefPubMed
2. 2.↵
   1. Uvebrant P,
   2. Hagberg B

   . Neuronal ceroid lipofuscinoses in Scandinavia: epidemiology and clinical pictures. Neuropediatrics 1997;28:6–8 doi:10.1055/s-2007-973654 pmid:9151309

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Adam MP,
   2. Ardinger HH,
   3. Pagon RA

   1. Mole SE,
   2. Williams RE, et al

   . Neuronal ceroid-lipofuscinoses. In: Adam MP, Ardinger HH, Pagon RA, eds. GeneReviews. University of Washington, Seattle; 1993
4. 4.↵
   1. Geraets RD,
   2. Koh Sy,
   3. Hastings ML, et al

   . Moving towards effective therapeutic strategies for neuronal ceroid lipofuscinosis. Orphanet J Rare Dis 2016;11:40 doi:10.1186/s13023-016-0414-2 pmid:27083890

   CrossRefPubMed
5. 5.↵
   1. Mukherjee AB,
   2. Appu AP,
   3. Sadhukhan T, et al

   . Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. Mol Neurodegener 2019;14:4 doi:10.1186/s13024-018-0300-6 pmid:30651094

   CrossRefPubMed
6. 6.↵
   1. Kline RA,
   2. Wishart TM,
   3. Mills K, et al

   . Applying modern Omic technologies to the neuronal ceroid lipofuscinoses. Biochim Biophys Acta Mol Basis Dis 2020;1866:165498 doi:10.1016/j.bbadis.2019.06.012 pmid:31207290

   CrossRefPubMed
7. 7.↵
   1. di Ronza A,
   2. Bajaj L,
   3. Sharma J, et al

   . CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. Nat Cell Biol 2018;20:1370–77 doi:10.1038/s41556-018-0228-7 pmid:30397314

   CrossRefPubMed
8. 8.↵
   1. Cooper JD,
   2. Mole SE

   . Future perspectives: what lies ahead for neuronal ceroid lipofuscinosis research? Biochim Biophys Acta Mol Basis Dis 2020;866:165681 doi:10.1016/j.bbadis.2020.165681 pmid:31926264

   CrossRefPubMed
9. 9.↵
   1. Kohlschütter A,
   2. Schulz A,
   3. Bartsch U, et al

   . Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs 2019;33:315–25 doi:10.1007/s40263-019-00620-8 pmid:30877620

   CrossRefPubMed
10. 10.↵
    Gene Therapy for Children with CLN3 Batten Disease. ClinicalTrials.gov. Accessed May 7, 2020
11. 11.↵
    Gene Therapy for Children with Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6). ClinicalTrials.gov. Accessed May 7, 2020
12. 12.↵
    1. D’Incerti L

    . MRI in neuronal ceroid lipofuscinosis. Neurol Sci 2000;21:S71–73 doi:10.1007/s100720070043 pmid:11073231

    CrossRefPubMed
13. 13.↵
    1. Baker EH,
    2. Levin SW,
    3. Zhang Z, et al

    . MRI brain volume measurements in infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol 2017;38:376–82 doi:10.3174/ajnr.A4978 pmid:27765741

    Abstract/FREE Full Text
14. 14.↵
    1. Vanhanen SL,
    2. Raininko R,
    3. Santavuor P, et al

    . MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis, Part 1: postmortem MRI with histopathologic correlation. J Child Neurol 1995;10:438–43 doi:10.1177/088307389501000603 pmid:8576552

    CrossRefPubMedWeb of Science
15. 15.↵
    1. Jiangxi X,
    2. Li G,
    3. Yuanchun Z, et al

    . MRI findings in childhood with neuronal ceroid lipofuscinosis. Chinese Journal of Radiology 2003;37:802–04
16. 16.↵
    1. Peña JA,
    2. Cruz EM,
    3. Leendertz R, et al

    . MRI and proton spectroscopy in children with late infantile neuronal ceroid lipofuscinosis: preliminary results. J Pediatr Neurol 2015;05:215–20 doi:10.1055/s-0035-1557389

    CrossRef
17. 17.↵
    1. Jadav RH,
    2. Sinha S,
    3. Yasha TC, et al

    . Magnetic resonance imaging in neuronal ceroid lipofuscinosis and its subtypes. Neuroradiol J 2012;25:755–61 doi:10.1177/197140091202500616 pmid:24029190

    CrossRefPubMed
18. 18.↵
    1. Vanhanen SL,
    2. Raininko R,
    3. Autti T, et al

    . MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis, Part 2: MRI findings in 21 patients. J Child Neurol 1995;10:444–50 doi:10.1177/088307389501000604 pmid:8576553

    CrossRefPubMedWeb of Science
19. 19.↵
    1. Autti T,
    2. Raininko R,
    3. Vanhanen SL, et al

    . MRI of neuronal ceroid lipofuscinosis. I: cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 1996;38:476–82 doi:10.1007/BF00607283

    CrossRefPubMedWeb of Science
20. 20.↵
    1. Vanhanen SL,
    2. Puranen J,
    3. Autti T, et al

    . Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. Neuropediatrics 2004;35:27–35 doi:10.1055/s-2004-815788 pmid:15002049

    CrossRefPubMedWeb of Science
21. 21.↵
    1. Dyke J,
    2. Sondhi D,
    3. Voss H, et al

    . Brain region specific degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis (CLN2 disease). AJNR Am J Neuroradiol 2016;37:1160–69 doi:10.3174/ajnr.A4669 pmid:26822727

    Abstract/FREE Full Text
22. 22.↵
    1. Roine U,
    2. Roine TJ,
    3. Hakkarainen A, et al

    . Global and widespread local white matter abnormalities in juvenile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol 2018;39:1349–54 doi:10.3174/ajnr.A5687 pmid:29853519

    Abstract/FREE Full Text
23. 23.↵
    1. Holmberg V,
    2. Lauronen L,
    3. Autti T, et al

    . Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 2000;55:579–81 doi:10.1212/WNL.55.4.579 pmid:10953198

    Abstract/FREE Full Text
24. 24.↵
    1. Autti T,
    2. Hämäläinen J,
    3. Aberg L, et al

    . Thalami and corona radiata in juvenile NCL (CLN3): a voxel-based morphometric study. Eur J Neurol 2007;14:447–50 doi:10.1111/j.1468-1331.2007.01692.x pmid:17388996

    CrossRefPubMed
25. 25.↵
    1. Tokola AM,
    2. Salli EK,
    3. Åberg LE, et al

    . Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study. Pediatr Neurol 2014;50:158–63 doi:10.1016/j.pediatrneurol.2013.10.013 pmid:24411222

    CrossRefPubMed
26. 26.↵
    1. Lauronen L,
    2. Santavuori P,
    3. Hirvasniemi A, et al

    . Northern epilepsy syndrome (NES, CLN8): MRI and electrophysiological studies. Eur J Paediatr Neurol 2001;5(Suppl A):167–73 doi:10.1053/ejpn.2000.0456 pmid:11588991

    CrossRefPubMed
27. 27.↵
    1. Alkhars FZ,
    2. Bo Ali AY,
    3. Almohanna MA, et al

    . Neuronal ceroid lipofuscinoses type 8: expanding genotype/phenotype diversity-first report from Saudi Arabia. Neurosciences (Riyadh) 2020;25:65–69 doi:10.17712/nsj.2020.1.20190103 pmid:31982899

    CrossRefPubMed
28. 28.↵
    1. Doccini S,
    2. Sartori S,
    3. Maeser S, et al

    . Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. J Neurol 2016;263:1029–32 doi:10.1007/s00415-016-8111-6 pmid:27072142

    CrossRefPubMed
29. 29.↵
    1. Varvagiannis K,
    2. Hanquinet S,
    3. Billieux MH, et al

    . Congenital neuronal ceroid lipofuscinosis with a novel CTSD gene mutation: a rare cause of neonatal-onset neurodegenerative disorder. Neuropediatrics 2018;49:150–53 doi:10.1055/s-0037-1613681 pmid:29284168

    CrossRefPubMed
30. 30.↵
    1. Kamate M,
    2. Detroja M,
    3. Hattiholi V

    . Neuronal ceroid lipofuscinosis type-11 in an adolescent. Brain Dev 2019;41:542–45 doi:10.1016/j.braindev.2019.03.004 pmid:30922528

    CrossRefPubMed
31. 31.↵
    1. Di Fabio R,
    2. Colonnese C,
    3. Santorelli FM, et al

    . Brain imaging in Kufs disease type B: case reports. BMC Neurol 2015;15:102 doi:10.1186/s12883-015-0357-6 pmid:26141065

    CrossRefPubMed
32. 32.↵
    1. Jilani A,
    2. Matviychuk D,
    3. Blaser S, et al

    . High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. JIMD Rep 2019;50:20–30 doi:10.1002/jmd2.12057 pmid:31741823

    CrossRefPubMed
33. 33.↵
    1. Machen BC,
    2. Williams JP,
    3. Lum GB, et al

    . Magnetic resonance imaging in neuronal ceroid lipofuscinosis. J Comput Tomogr 1987;11:160–66 doi:10.1016/0149-936x(87)90010-5 pmid:3495405

    CrossRefPubMed
34. 34.↵
    1. Valavanis A,
    2. Friede RL,
    3. Schubiger O, et al

    . Computed tomography in neuronal ceroid lipofuscinosis. Neuroradiology 1980;19:35–38 doi:10.1007/BF00369086 pmid:7354915

    CrossRefPubMedWeb of Science
35. 35.↵
    1. Vanhanen SL,
    2. Raininko R,
    3. Santavuori P

    . Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. AJNR Am J Neuroradiol 1994;15:1443–53 pmid:7985561

    Abstract/FREE Full Text
36. 36.↵
    1. Haltia M,
    2. Rapola J,
    3. Santavuori P

    . Infantile type of so-called neuronal ceroid-lipofuscinosis. histological and electron microscopic studies. Acta Neuropathol 1973;26:157–70 doi:10.1007/BF00697751 pmid:4763201

    CrossRefPubMedWeb of Science
37. 37.
    1. Haltia M,
    2. Rapola J,
    3. Santavuori P, et al

    . Infantile type of so-called neuronal ceroid-lipofuscinosis, Part 2: morphological and biochemical studies. J Neurol Sci 1973;18:269–85 doi:10.1016/0022-510X(73)90076-2

    CrossRefPubMedWeb of Science
38. 38.↵
    1. Heiskala H,
    2. Gutteridge JM,
    3. Westermarck T, et al

    . Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses. Am J Med Genet Suppl 1988;5:193–202 doi:10.1002/ajmg.1320310622 pmid:2464355

    CrossRefPubMed
39. 39.↵
    1. Wisniewski KE,
    2. Kida E,
    3. Connell F, et al

    . New subform of the late infantile form of neuronal ceroid lipofuscinosis. Neuropediatrics 1993;24:155–63 doi:10.1055/s-2008-1071534 pmid:8355821

    CrossRefPubMedWeb of Science
40. 40.↵
    1. Autti T,
    2. Raininko R,
    3. Launes J, et al

    . Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings. Pediatr Neurol 1992;8:121–26 doi:10.1016/0887-8994(92)90032-T pmid:1580955

    CrossRefPubMedWeb of Science
41. 41.↵
    1. McLaren MD,
    2. Mathavarajah S,
    3. Huber RJ

    . Recent insights into NCL protein function using the model organism Dictyostelium discoideum. Cells 2019;8:115 doi:10.3390/cells8020115 pmid:30717401

    CrossRefPubMed
42. 42.↵
    1. Vesa J,
    2. Chin MH,
    3. Oelgeschläger K, et al

    . Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell 2002;13:2410–20 doi:10.1091/mbc.e02-01-0031 pmid:12134079

    Abstract/FREE Full Text
43. 43.↵
    1. Marotta D,
    2. Tinelli E,
    3. Mole SE

    . NCLs and ER: a stressful relationship. Biochim Biophys Acta Mol Basis Dis 2017;1863:1273–81 doi:10.1016/j.bbadis.2017.04.003 pmid:28390949

    CrossRefPubMed