Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria

References

1. 1.↵
   2. Arvio M,
   3. Mononen I

   . Aspartylglycosaminuria: a review. Orphanet J Rare Dis 2016;11:162 doi:10.1186/s13023-016-0544-6 pmid:27906067

   CrossRefPubMed
2. 2.↵
   2. Harjunen E,
   3. Laine M,
   4. Tikkanen R, et al

   . Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria. J Inherit Metab Dis 2019 Aug 15. [Epub ahead of print] doi:10.1002/jimd.12159 pmid:31415096

   CrossRefPubMed
3. 3.↵
   2. Arvio P,
   3. Arvio M

   . Progressive nature of aspartylglucosaminuria. Acta Paediatr 2002;91:255–57 doi:10.1080/08035250252833842 pmid:12022293

   CrossRefPubMedWeb of Science
4. 4.↵
   2. Saarela J,
   3. Laine M,
   4. Oinonen C, et al

   . Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet 2001;10:983–95 doi:10.1093/hmg/10.9.983 pmid:11309371

   CrossRefPubMedWeb of Science
5. 5.↵
   2. Syvänen AC,
   3. Ikonen E,
   4. Manninen T, et al

   . Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics 1992;12:590–95 doi:10.1016/0888-7543(92)90452-X pmid:1559710

   CrossRefPubMedWeb of Science
6. 6.↵
   2. Stenson PD,
   3. Mort M,
   4. Ball EV, et al

   . The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014;133:1–9 doi:10.1007/s00439-013-1358-4 pmid:24077912

   CrossRefPubMed
7. 7.↵
   2. Mononen I,
   3. Fisher KJ,
   4. Kaartinen V, et al

   . Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB J 1993;7:1247–56 doi:10.1096/fasebj.7.13.8405810 pmid:8405810

   CrossRefPubMedWeb of Science
8. 8.↵
   2. Banning A,
   3. Gülec C,
   4. Rouvinen J, et al

   . Identification of small molecule compounds for pharmacological chaperone therapy of aspartylglucosaminuria. Sci Rep 2016;6:37583 doi:10.1038/srep37583 pmid:27876883

   CrossRefPubMed
9. 9.↵
   2. Dunder U,
   3. Valtonen P,
   4. Kelo E, et al

   . Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. J Inherit Metab Dis 2010;33:611–17 doi:10.1007/s10545-010-9158-7 pmid:20607610

   CrossRefPubMed
10. 10.↵
    2. Virta S,
    3. Rapola J,
    4. Jalanko A, et al

    . Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. J Gene Med 2006;8:699–706 doi:10.1002/jgm.892 pmid:16518877

    CrossRefPubMed
11. 11.↵
    2. Arvio M,
    3. Sauna-Aho O,
    4. Peippo M

    . Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. J Pediatr 2001;138:288–90 doi:10.1067/mpd.2001.110119 pmid:11174635

    CrossRefPubMed
12. 12.↵
    2. Haacke EM,
    3. Xu Y,
    4. Cheng Y-C, et al

    . Susceptibility weighted imaging (SWI). Magn Reson Med 2004;52:612–18 doi:10.1002/mrm.20198 pmid:15334582

    CrossRefPubMedWeb of Science
13. 13.↵
    2. Haacke EM,
    3. Mittal S,
    4. Wu Z, et al

    . Susceptibility-weighted imaging: technical aspects and clinical applications, Part 1. AJNR Am J Neuroradiol 2009;30:19–30 doi:10.3174/ajnr.A1400 pmid:19039041

    Abstract/FREE Full Text
14. 14.↵
    2. Schweser F,
    3. Deistung A,
    4. Lehr BW, et al

    . Differentiation between diamagnetic and paramagnetic cerebral lesions based on magnetic susceptibility mapping. Med Phys 2010;37:5165–78 doi:10.1118/1.3481505 pmid:21089750

    CrossRefPubMed
15. 15.↵
    2. Ropele S,
    3. Enzinger C,
    4. Fazekas F

    . Iron mapping in multiple sclerosis. Neuroimaging Clin N Am 2017;27:335–42 doi:10.1016/j.nic.2016.12.003 pmid:28391790

    CrossRefPubMed
16. 16.↵
    2. Sehgal V,
    3. Delproposto Z,
    4. Haacke EM, et al

    . Clinical applications of neuroimaging with susceptibility-weighted imaging. J Magn Reson Imaging 2005;22:439–50 doi:10.1002/jmri.20404 pmid:16163700

    CrossRefPubMed
17. 17.↵
    2. Tokola AM,
    3. Åberg LE,
    4. Autti TH

    . Brain MRI findings in aspartylglucosaminuria. J Neuroradiol 2015;42:345–57 doi:10.1016/j.neurad.2015.03.003 pmid:26026191

    CrossRefPubMed
18. 18.↵
    2. Autti T,
    3. Lonnqvist T,
    4. Joensuu R

    . Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. Acta Radiol 2008;49:687–92 doi:10.1080/02841850802065000 pmid:18568562

    CrossRefPubMedWeb of Science
19. 19.↵
    2. Autti T,
    3. Raininko R,
    4. Haltia M, et al

    . Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. J Child Neurol 1997;12:36 doi:10.1177/088307389701200606 pmid:9309520

    CrossRefPubMed
20. 20.↵
    2. Jalanko A,
    3. Tenhunen K,
    4. McKinney CE, et al

    . Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet 1998;7:265–72 doi:10.1093/hmg/7.2.265 pmid:9425233

    CrossRefPubMed
21. 21.↵
    2. Schweser F,
    3. Raffaini Duarte Martins AL,
    4. Hagemeier J, et al

    . Mapping of thalamic magnetic susceptibility in multiple sclerosis indicates decreasing iron with disease duration: a proposed mechanistic relationship between inflammation and oligodendrocyte vitality. Neuroimage 2018;167:438–52 doi:10.1016/j.neuroimage.2017.10.063 pmid:29097315

    CrossRefPubMed
22. 22.↵
    2. Bosch ME,
    3. Kielian T

    . Neuroinflammatory paradigms in lysosomal storage diseases. Front Neurosci 2015;9:417 doi:10.3389/fnins.2015.00417 pmid:26578874

    CrossRefPubMed
23. 23.↵
    2. Futerman AH,
    3. Van Meer G

    . The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 2004;5:554–65 doi:10.1038/nrm1423 pmid:15232573

    CrossRefPubMedWeb of Science
24. 24.↵
    2. Bras JM

    . Lysosomal storage disorders and iron. Int Rev Neurobiol 2013;110:251–75 doi:10.1016/B978-0-12-410502-7.00012-0 pmid:24209442

    CrossRefPubMed
25. 25.↵
    2. Mitchell AS,
    3. Sherman SM,
    4. Sommer MA, et al

    . Advances in understanding mechanisms of thalamic relays in cognition and behavior. J Neurosci 2014;34:15340–46 doi:10.1523/JNEUROSCI.3289-14.2014 pmid:25392501

    Abstract/FREE Full Text
26. 26.↵
    2. Tokola A,
    3. Brandstack N,
    4. Hakkarainen A, et al

    . Erratum: White matter microstructure and subcortical gray matter structure volumes in aspartylglucosaminuria; a 5-year follow-up brain MRI study of an adolescent with aspartylglucosaminuria and his healthy twin brother. JIMD Rep 2017;35:117 doi:10.1007/8904_2017_18 pmid:28341936

    CrossRefPubMed
27. 27.↵
    2. Wang Y,
    3. Liu T

    . Quantitative susceptibility mapping (QSM): decoding MRI data for a tissue magnetic biomarker. Magn Reson Med 2015;73:82–101 doi:10.1002/mrm.25358 pmid:25044035

    CrossRefPubMed
28. 28.↵
    2. Schweser F,
    3. Deistung A,
    4. Lehr BW, et al

    . Quantitative imaging of intrinsic magnetic tissue properties using MRI signal phase: an approach to in vivo brain iron metabolism? Neuroimage 2011;54:2789–807 doi:10.1016/j.neuroimage.2010.10.070 pmid:21040794

    CrossRefPubMedWeb of Science
29. 29.↵
    2. Morel A

    . Stereotactic Atlas of the Human Thalamus and Basal Ganglia. Boca Raton; CRC Press; 2007