MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

References

1. 1.↵
   2. Anderson GW,
   3. Goebel HH,
   4. Simonati A

   . Human pathology in NCL. Biochim Biophys Acta 2 2013;1832:1807–26 doi:10.1016/j.bbadis.2012.11.014 pmid:23200925

   CrossRefPubMedWeb of Science
2. 2.↵
   2. Mole SE,
   3. Williams RE,
   4. Goebel HH

   . The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford: Oxford University Press; 2011
3. 3.↵
   2. Haltia M

   . The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006;1762:850–56 doi:10.1016/j.bbadis.2006.06.010 pmid:16908122

   CrossRefPubMed
4. 4.↵
   2. Platt FM,
   3. Boland B,
   4. van der Spoel AC

   . The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Boil 2012;199:723–34 doi:10.1083/jcb.201208152 pmid:23185029

   CrossRefPubMed
5. 5.↵
   2. Rider JA,
   3. Rider DL

   . Batten disease: past, present, and future. Am J Med Genet Suppl 1988;5:21–26 pmid:3146319

   PubMed
6. 6.↵
   2. Warrier V,
   3. Vieira M,
   4. Mole SE

   . Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochi Biochim Biophys Acta 2013;1832:1827–30 doi:10.1016/j.bbadis.2013.03.017 pmid:23542453

   CrossRefPubMed
7. 7.↵
   2. Mole SE,
   3. Cotman SL

   . Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta 2015;1852:2237–41 doi:10.1016/j.bbadis.2015.05.011 pmid:26026925

   CrossRefPubMed
8. 8.↵
   2. Haltia M,
   3. Rapola J,
   4. 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
9. 9.↵
   2. Vesa J,
   3. Hellsten E,
   4. Verkruyse LA, et al

   . Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584–87 doi:10.1038/376584a0 pmid:7637805

   CrossRefPubMedWeb of Science
10. 10.↵
    2. Vanhanen SL,
    3. Sainio K,
    4. Lappi M, et al

    . EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. Dev Med Child Neurol 1997;39:456–63 pmid:9285436

    PubMedWeb of Science
11. 11.↵
    2. Baker EH,
    3. Levin SW,
    4. Zhang Z, et al

    . Evaluation of disease progression in INCL by MR spectroscopy. Ann Clin Transl Neurol 2015;2:797–809 doi:10.1002/acn3.222 pmid:26339674

    CrossRefPubMed
12. 12.↵
    2. Goebel HH,
    3. Wisniewski KE

    . Current state of clinical and morphological features in human NCL. Brain Pathol 2004;14:61–69 doi:10.1111/j.1750-3639.2004.tb00499.x pmid:14997938

    CrossRefPubMedWeb of Science
13. 13.↵
    2. Santavuori P,
    3. Vanhanen SL,
    4. Sainio K, et al

    . Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria. J Inherit Metab Dis 1993;16:227–29 doi:10.1007/BF00710250 pmid:8411966

    CrossRefPubMedWeb of Science
14. 14.↵
    2. Zhang Z,
    3. Butler JD,
    4. Levin SW, et al

    . Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med 2001;7:478–84 doi:10.1038/86554 pmid:11283676

    CrossRefPubMedWeb of Science
15. 15.↵
    2. Bavarsad Shahripour R,
    3. Harrigan MR,
    4. Alexandrov AV

    . N-acetylcysteine (NAC) in neurological disorders: mechanisms of action and therapeutic opportunities. Brain Behav 2014;4:108–22 doi:10.1002/brb3.208 pmid:24683506

    CrossRefPubMed
16. 16.↵
    2. Levin SW,
    3. Baker EH,
    4. Zein WM, et al

    . Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. Lancet Neurol 2014;13:777–87 doi:10.1016/S1474-4422(14)70142-5 pmid:24997880

    CrossRefPubMed
17. 17.↵
    2. Miao N,
    3. Levin SW,
    4. Baker EH, et al

    . Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia. Anesth Analg 2009;109:372–78 doi:10.1213/ane.0b013e3181aa6e95 pmid:19608805

    CrossRefPubMedWeb of Science
18. 18.↵
    2. McAuliffe MJ,
    3. Lalonde FM,
    4. McGarry D, et al

    . Medical image processing, analysis and visualization in clinical research. In: Proceedings of the 14th IEEE Symposium on Computer-Based Medical Systems, Washington, DC. July 26–27, 2001:381–86 doi:10.1109/CBMS.2001.941749
19. 19.↵
    2. Das AK,
    3. Becerra CH,
    4. Yi W, et al

    . Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest 1998;102:361–70 doi:10.1172/JCI3112 pmid:9664077

    CrossRefPubMedWeb of Science
20. 20.↵
    2. Kielar C,
    3. Maddox L,
    4. Bible E, et al

    . Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2007;25:150–62 doi:10.1016/j.nbd.2006.09.001 pmid:17046272

    CrossRefPubMedWeb of Science
21. 21.↵
    2. Bible E,
    3. Gupta P,
    4. Hofmann SL, et al

    . Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004;16:346–59 doi:10.1016/j.nbd.2004.02.010 pmid:15193291

    CrossRefPubMedWeb of Science
22. 22.↵
    2. Vanhanen SL,
    3. Puranen J,
    4. 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
23. 23.↵
    2. Miller BL

    . A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 1991;4:47–52 doi:10.1002/nbm.1940040203 pmid:1650241

    CrossRefPubMedWeb of Science
24. 24.↵
    2. Simmons ML,
    3. Frondoza CG,
    4. Coyle JT

    . Immunocytochemical localization of N-acetyl-aspartate with monoclonal antibodies. Neuroscience 1991;45:37–45 doi:10.1016/0306-4522(91)90101-S pmid:1754068

    CrossRefPubMedWeb of Science
25. 25.↵
    2. Vanhanen SL,
    3. Raininko R,
    4. 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

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